(used for variant description)
(last modified December 5, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001982.3 in the ERBB3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering ERBB3 transcript NM_001982.3.
(upstream sequence)
. . . g.5036
actccagcctcgcgcgggagggggcgcggccgtgac c.-241
. . . . . . g.5096
tcacccccttccctctgcgttcctccctccctctctctctctctctcacacacacacacc c.-181
. . . . . . g.5156
cctcccctgccatccctccccggactccggctccggctccgattgcaatttgcaacctcc c.-121
. . . . . . g.5216
gctgccgtcgccgcagcagccaccaattcgccagcggttcaggtggctcttgcctcgatg c.-61
. . . . . . g.5276
tcctagcctaggggcccccgggccggacttggctgggctcccttcaccctctgcggagtc c.-1
. . . . . . g.5336
ATGAGGGCGAACGACGCTCTGCAGGTGCTGGGCTTGCTTTTCAGCCTGGCCCGGGGCTCC c.60
M R A N D A L Q V L G L L F S L A R G S p.20
. . | 02 . . . . g.8764
GAGGTGGGCAACTCTCAGGCAG | TGTGTCCTGGGACTCTGAATGGCCTGAGTGTGACCGGC c.120
E V G N S Q A V | C P G T L N G L S V T G p.40
. . . . . . g.8824
GATGCTGAGAACCAATACCAGACACTGTACAAGCTCTACGAGAGGTGTGAGGTGGTGATG c.180
D A E N Q Y Q T L Y K L Y E R C E V V M p.60
. . . . . | 03 . g.9976
GGGAACCTTGAGATTGTGCTCACGGGACACAATGCCGACCTCTCCTTCCTGCAG | TGGATT c.240
G N L E I V L T G H N A D L S F L Q | W I p.80
. . . . . . g.10036
CGAGAAGTGACAGGCTATGTCCTCGTGGCCATGAATGAATTCTCTACTCTACCATTGCCC c.300
R E V T G Y V L V A M N E F S T L P L P p.100
. . . . . . g.10096
AACCTCCGCGTGGTGCGAGGGACCCAGGTCTACGATGGGAAGTTTGCCATCTTCGTCATG c.360
N L R V V R G T Q V Y D G K F A I F V M p.120
. . . . . . g.10156
TTGAACTATAACACCAACTCCAGCCACGCTCTGCGCCAGCTCCGCTTGACTCAGCTCACC c.420
L N Y N T N S S H A L R Q L R L T Q L T p.140
| 04 . . . . . . g.11565
G | AGATTCTGTCAGGGGGTGTTTATATTGAGAAGAACGATAAGCTTTGTCACATGGACACA c.480
E | I L S G G V Y I E K N D K L C H M D T p.160
. . . . . . g.11625
ATTGACTGGAGGGACATCGTGAGGGACCGAGATGCTGAGATAGTGGTGAAGGACAATGGC c.540
I D W R D I V R D R D A E I V V K D N G p.180
| 05. . . . . . g.12605
AGAAGCT | GTCCCCCCTGTCATGAGGTTTGCAAGGGGCGATGCTGGGGTCCTGGATCAGAA c.600
R S C | P P C H E V C K G R C W G P G S E p.200
. | 06 . . . . . g.12817
GACTGCCAGACAT | TGACCAAGACCATCTGTGCTCCTCAGTGTAATGGTCACTGCTTTGGG c.660
D C Q T L | T K T I C A P Q C N G H C F G p.220
. . . . . . g.12877
CCCAACCCCAACCAGTGCTGCCATGATGAGTGTGCCGGGGGCTGCTCAGGCCCTCAGGAC c.720
P N P N Q C C H D E C A G G C S G P Q D p.240
. | 07 . . . . . g.13044
ACAGACTGCTTT | GCCTGCCGGCACTTCAATGACAGTGGAGCCTGTGTACCTCGCTGTCCA c.780
T D C F | A C R H F N D S G A C V P R C P p.260
. . . . . . g.13104
CAGCCTCTTGTCTACAACAAGCTAACTTTCCAGCTGGAACCCAATCCCCACACCAAGTAT c.840
Q P L V Y N K L T F Q L E P N P H T K Y p.280
. . . | 08 . . . g.13544
CAGTATGGAGGAGTTTGTGTAGCCAGCTGTCCCC | ATAACTTTGTGGTGGATCAAACATCC c.900
Q Y G G V C V A S C P H | N F V V D Q T S p.300
. . . . . . g.13604
TGTGTCAGGGCCTGTCCTCCTGACAAGATGGAAGTAGATAAAAATGGGCTCAAGATGTGT c.960
C V R A C P P D K M E V D K N G L K M C p.320
. . | 09 . . . g.13755
GAGCCTTGTGGGGGACTATGTCCCAAAG | CCTGTGAGGGAACAGGCTCTGGGAGCCGCTTC c.1020
E P C G G L C P K A | C E G T G S G S R F p.340
. . . . . . g.13815
CAGACTGTGGACTCGAGCAACATTGATGGATTTGTGAACTGCACCAAGATCCTGGGCAAC c.1080
Q T V D S S N I D G F V N C T K I L G N p.360
. . | 10 . . . g.17753
CTGGACTTTCTGATCACCGGCCTCAATGG | AGACCCCTGGCACAAGATCCCTGCCCTGGAC c.1140
L D F L I T G L N G | D P W H K I P A L D p.380
. . . . | 11 . . g.17978
CCAGAGAAGCTCAATGTCTTCCGGACAGTACGGGAGATCACAG | GTTACCTGAACATCCAG c.1200
P E K L N V F R T V R E I T G | Y L N I Q p.400
. . . . . . g.18038
TCCTGGCCGCCCCACATGCACAACTTCAGTGTTTTTTCCAATTTGACAACCATTGGAGGC c.1260
S W P P H M H N F S V F S N L T T I G G p.420
. | 12 . . . . . g.18366
AGAAGCCTCTACAA | CCGGGGCTTCTCATTGTTGATCATGAAGAACTTGAATGTCACATCT c.1320
R S L Y N | R G F S L L I M K N L N V T S p.440
. . . . . . g.18426
CTGGGCTTCCGATCCCTGAAGGAAATTAGTGCTGGGCGTATCTATATAAGTGCCAATAGG c.1380
L G F R S L K E I S A G R I Y I S A N R p.460
. . . . . . g.18486
CAGCTCTGCTACCACCACTCTTTGAACTGGACCAAGGTGCTTCGGGGGCCTACGGAAGAG c.1440
Q L C Y H H S L N W T K V L R G P T E E p.480
. . . . | 13 . . g.18759
CGACTAGACATCAAGCATAATCGGCCGCGCAGAGACTGCG | TGGCAGAGGGCAAAGTGTGT c.1500
R L D I K H N R P R R D C V | A E G K V C p.500
. . . . . . g.18819
GACCCACTGTGCTCCTCTGGGGGATGCTGGGGCCCAGGCCCTGGTCAGTGCTTGTCCTGT c.1560
D P L C S S G G C W G P G P G Q C L S C p.520
. . . . . | 14 . g.19081
CGAAATTATAGCCGAGGAGGTGTCTGTGTGACCCACTGCAACTTTCTGAATGG | GGAGCCT c.1620
R N Y S R G G V C V T H C N F L N G | E P p.540
. . . . . . g.19141
CGAGAATTTGCCCATGAGGCCGAATGCTTCTCCTGCCACCCGGAATGCCAACCCATGGAG c.1680
R E F A H E A E C F S C H P E C Q P M E p.560
. . | 15 . . . . g.19413
GGCACTGCCACATGCAATGGCTCG | GGCTCTGATACTTGTGCTCAATGTGCCCATTTTCGA c.1740
G T A T C N G S | G S D T C A Q C A H F R p.580
. . . . . . g.19473
GATGGGCCCCACTGTGTGAGCAGCTGCCCCCATGGAGTCCTAGGTGCCAAGGGCCCAATC c.1800
D G P H C V S S C P H G V L G A K G P I p.600
. . . . . | 16 g.20233
TACAAGTACCCAGATGTTCAGAATGAATGTCGGCCCTGCCATGAGAACTGCACCCAGGG | G c.1860
Y K Y P D V Q N E C R P C H E N C T Q G | p.620
. . . . . | 17 . g.20647
TGTAAAGGACCAGAGCTTCAAGACTGTTTAGGACAAACACTGGTGCTGATCGG | CAAAACC c.1920
C K G P E L Q D C L G Q T L V L I G | K T p.640
. . . . . . g.20707
CATCTGACAATGGCTTTGACAGTGATAGCAGGATTGGTAGTGATTTTCATGATGCTGGGC c.1980
H L T M A L T V I A G L V V I F M M L G p.660
. . . . . . g.20767
GGCACTTTTCTCTACTGGCGTGGGCGCCGGATTCAGAATAAAAGGGCTATGAGGCGATAC c.2040
G T F L Y W R G R R I Q N K R A M R R Y p.680
. | 18 . . . . . g.21523
TTGGAACGGGGTGAG | AGCATAGAGCCTCTGGACCCCAGTGAGAAGGCTAACAAAGTCTTG c.2100
L E R G E | S I E P L D P S E K A N K V L p.700
. . . . . . g.21583
GCCAGAATCTTCAAAGAGACAGAGCTAAGGAAGCTTAAAGTGCTTGGCTCGGGTGTCTTT c.2160
A R I F K E T E L R K L K V L G S G V F p.720
. | 19 . . . . . g.21768
GGAACTGTGCACAAA | GGAGTGTGGATCCCTGAGGGTGAATCAATCAAGATTCCAGTCTGC c.2220
G T V H K | G V W I P E G E S I K I P V C p.740
. . . . . | 20 . g.22026
ATTAAAGTCATTGAGGACAAGAGTGGACGGCAGAGTTTTCAAGCTGTGACAGAT | CATATG c.2280
I K V I E D K S G R Q S F Q A V T D | H M p.760
. . . . . . g.22086
CTGGCCATTGGCAGCCTGGACCATGCCCACATTGTAAGGCTGCTGGGACTATGCCCAGGG c.2340
L A I G S L D H A H I V R L L G L C P G p.780
. . . . . . g.22146
TCATCTCTGCAGCTTGTCACTCAATATTTGCCTCTGGGTTCTCTGCTGGATCATGTGAGA c.2400
S S L Q L V T Q Y L P L G S L L D H V R p.800
. . . . . . g.22206
CAACACCGGGGGGCACTGGGGCCACAGCTGCTGCTCAACTGGGGAGTACAAATTGCCAAG c.2460
Q H R G A L G P Q L L L N W G V Q I A K p.820
| 21 . . . . . . g.22820
| GGAATGTACTACCTTGAGGAACATGGTATGGTGCATAGAAACCTGGCTGCCCGAAACGTG c.2520
| G M Y Y L E E H G M V H R N L A A R N V p.840
. . . . . . g.22880
CTACTCAAGTCACCCAGTCAGGTTCAGGTGGCAGATTTTGGTGTGGCTGACCTGCTGCCT c.2580
L L K S P S Q V Q V A D F G V A D L L P p.860
. . . | 22 . . . g.23499
CCTGATGATAAGCAGCTGCTATACAGTGAGGCCAAG | ACTCCAATTAAGTGGATGGCCCTT c.2640
P D D K Q L L Y S E A K | T P I K W M A L p.880
. . . . . | 23 . g.23742
GAGAGTATCCACTTTGGGAAATACACACACCAGAGTGATGTCTGGAGCTATG | GTGTGACA c.2700
E S I H F G K Y T H Q S D V W S Y G | V T p.900
. . . . . . g.23802
GTTTGGGAGTTGATGACCTTCGGGGCAGAGCCCTATGCAGGGCTACGATTGGCTGAAGTA c.2760
V W E L M T F G A E P Y A G L R L A E V p.920
. . . . . . g.23862
CCAGACCTGCTAGAGAAGGGGGAGCGGTTGGCACAGCCCCAGATCTGCACAATTGATGTC c.2820
P D L L E K G E R L A Q P Q I C T I D V p.940
. | 24 . . . . g.24664
TACATGGTGATGGTCAAGT | GTTGGATGATTGATGAGAACATTCGCCCAACCTTTAAAGAA c.2880
Y M V M V K C | W M I D E N I R P T F K E p.960
. . . . . | 25. g.24816
CTAGCCAATGAGTTCACCAGGATGGCCCGAGACCCACCACGGTATCTGGTCATAAAG | AGA c.2940
L A N E F T R M A R D P P R Y L V I K | R p.980
. . . . . . g.24876
GAGAGTGGGCCTGGAATAGCCCCTGGGCCAGAGCCCCATGGTCTGACAAACAAGAAGCTA c.3000
E S G P G I A P G P E P H G L T N K K L p.1000
. . . . . . g.24936
GAGGAAGTAGAGCTGGAGCCAGAACTAGACCTAGACCTAGACTTGGAAGCAGAGGAGGAC c.3060
E E V E L E P E L D L D L D L E A E E D p.1020
. . . . . . g.24996
AACCTGGCAACCACCACACTGGGCTCCGCCCTCAGCCTACCAGTTGGAACACTTAATCGG c.3120
N L A T T T L G S A L S L P V G T L N R p.1040
| 26 . . . . . g.25200
CCACGTGGG | AGCCAGAGCCTTTTAAGTCCATCATCTGGATACATGCCCATGAACCAGGGT c.3180
P R G | S Q S L L S P S S G Y M P M N Q G p.1060
. . | 27 . . . . g.26075
AATCTTGGGGAGTCTTGCCAG | GAGTCTGCAGTTTCTGGGAGCAGTGAACGGTGCCCCCGT c.3240
N L G E S C Q | E S A V S G S S E R C P R p.1080
. . . . . . g.26135
CCAGTCTCTCTACACCCAATGCCACGGGGATGCCTGGCATCAGAGTCATCAGAGGGGCAT c.3300
P V S L H P M P R G C L A S E S S E G H p.1100
. . . . . . g.26195
GTAACAGGCTCTGAGGCTGAGCTCCAGGAGAAAGTGTCAATGTGTAGGAGCCGGAGCAGG c.3360
V T G S E A E L Q E K V S M C R S R S R p.1120
. . . . . . g.26255
AGCCGGAGCCCACGGCCACGCGGAGATAGCGCCTACCATTCCCAGCGCCACAGTCTGCTG c.3420
S R S P R P R G D S A Y H S Q R H S L L p.1140
. . . . . . g.26315
ACTCCTGTTACCCCACTCTCCCCACCCGGGTTAGAGGAAGAGGATGTCAACGGTTATGTC c.3480
T P V T P L S P P G L E E E D V N G Y V p.1160
. . | 28 . . . . g.26542
ATGCCAGATACACACCTCAAAG | GTACTCCCTCCTCCCGGGAAGGCACCCTTTCTTCAGTG c.3540
M P D T H L K G | T P S S R E G T L S S V p.1180
. . . . . . g.26602
GGTCTCAGTTCTGTCCTGGGTACTGAAGAAGAAGATGAAGATGAGGAGTATGAATACATG c.3600
G L S S V L G T E E E D E D E E Y E Y M p.1200
. . . . . . g.26662
AACCGGAGGAGAAGGCACAGTCCACCTCATCCCCCTAGGCCAAGTTCCCTTGAGGAGCTG c.3660
N R R R R H S P P H P P R P S S L E E L p.1220
. . . . . . g.26722
GGTTATGAGTACATGGATGTGGGGTCAGACCTCAGTGCCTCTCTGGGCAGCACACAGAGT c.3720
G Y E Y M D V G S D L S A S L G S T Q S p.1240
. . . . . . g.26782
TGCCCACTCCACCCTGTACCCATCATGCCCACTGCAGGCACAACTCCAGATGAAGACTAT c.3780
C P L H P V P I M P T A G T T P D E D Y p.1260
. . . . . . g.26842
GAATATATGAATCGGCAACGAGATGGAGGTGGTCCTGGGGGTGATTATGCAGCCATGGGG c.3840
E Y M N R Q R D G G G P G G D Y A A M G p.1280
. . . . . . g.26902
GCCTGCCCAGCATCTGAGCAAGGGTATGAAGAGATGAGAGCTTTTCAGGGGCCTGGACAT c.3900
A C P A S E Q G Y E E M R A F Q G P G H p.1300
. . . . . . g.26962
CAGGCCCCCCATGTCCATTATGCCCGCCTAAAAACTCTACGTAGCTTAGAGGCTACAGAC c.3960
Q A P H V H Y A R L K T L R S L E A T D p.1320
. . . . . . g.27022
TCTGCCTTTGATAACCCTGATTACTGGCATAGCAGGCTTTTCCCCAAGGCTAATGCCCAG c.4020
S A F D N P D Y W H S R L F P K A N A Q p.1340
g.27031
AGAACGTAA c.4029
R T X p.1342
. . . . . . g.27091
ctcctgctccctgtggcactcagggagcatttaatggcagctagtgcctttagagggtac c.*60
. . . . . . g.27151
cgtcttctccctattccctctctctcccaggtcccagccccttttccccagtcccagaca c.*120
. . . . . . g.27211
attccattcaatctttggaggcttttaaacattttgacacaaaattcttatggtatgtag c.*180
. . . . . . g.27271
ccagctgtgcactttcttctctttcccaaccccaggaaaggttttccttattttgtgtgc c.*240
. . . . . . g.27331
tttcccagtcccattcctcagcttcttcacaggcactcctggagatatgaaggattactc c.*300
. . . . . . g.27391
tccatatcccttcctctcaggctcttgactacttggaactaggctcttatgtgtgccttt c.*360
. . . . . . g.27451
gtttcccatcagactgtcaagaagaggaaagggaggaaacctagcagaggaaagtgtaat c.*420
. . . . . . g.27511
tttggtttatgactcttaaccccctagaaagacagaagcttaaaatctgtgaagaaagag c.*480
. . . . . . g.27571
gttaggagtagatattgattactatcataattcagcacttaactatgagccaggcatcat c.*540
. . . . . . g.27631
actaaacttcacctacattatctcacttagtcctttatcatccttaaaacaattctgtga c.*600
. . . . . . g.27691
catacatattatctcattttacacaaagggaagtcgggcatggtggctcatgcctgtaat c.*660
. . . . . . g.27751
ctcagcactttgggaggctgaggcagaaggattacctgaggcaaggagtttgagaccagc c.*720
. . . . . . g.27811
ttagccaacatagtaagacccccatctctttaaaaaaaaaaaaaaaaaaaaaaaaaaaac c.*780
. . . . . . g.27871
tttagaactgggtgcagtggctcatgcctgtaatcccagccagcactttgggaggctgag c.*840
. . . . . . g.27931
atgggaagatcacttgagcccagaattagagataagcctatggaaacatagcaagacact c.*900
. . . . . . g.27991
gtctctacaggggaaaaaaaaaaaagaaactgagccttaaagagatgaaataaattaagc c.*960
. . . . . . g.28051
agtagatccaggatgcaaaatcctcccaattcctgtgcatgtgctcttattgtaaggtgc c.*1020
. . . . . . g.28111
caagaaaaactgatttaagttacagcccttgtttaaggggcactgtttcttgtttttgca c.*1080
. . . . . . g.28171
ctgaatcaagtctaaccccaacagccacatcctcctatacctagacatctcatctcagga c.*1140
. . . . . . g.28231
agtggtggtgggggtagtcagaaggaaaaataactggacatctttgtgtaaaccataatc c.*1200
. . . . . . g.28291
cacatgtgccgtaaatgatcttcactccttatccgagggcaaattcacaaggatccccaa c.*1260
. . . . . . g.28351
gatccacttttagaagccattctcatccagcagtgagaagcttccaggtaggacagaaaa c.*1320
. . . . . . g.28411
aagatccagcttcagctgcacacctctgtccccttggatggggaactaagggaaaacgtc c.*1380
. . . . . . g.28471
tgttgtatcactgaagttttttgttttgtttttatacgtgtctgaataaaaatgccaaag c.*1440
. g.28483
ttttttttcagc c.*1452
(downstream sequence)
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