(used for variant description)
(last modified June 9, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_020706.2 in the SCAF4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering SCAF4 transcript NM_020706.2.
(upstream sequence)
g.5006
agggtg c.-421
. . . . . . g.5066
ccccgcgcggcgtggactcgggccgctgccgccatcccgctggagagagggagagagagg c.-361
. . . . . . g.5126
cccgcccgctcgccggccgggccagtgtgagccagtgcgtgagggcgcggggggccgtgt c.-301
. . . . . . g.5186
cagcgagacgcagagcgcagccgccaccaccaaacggacatgttgaagaccagcgctgcc c.-241
. . . . . . g.5246
gccgcctccttttcctcatcctgcgaacgggactgagagggggcccgccacctctccgcc c.-181
. . . . . . g.5306
tctgcctcggccgcccgcctcgccgcttcgggcgcagcctcttcctgcccgggcctcgga c.-121
. . . . . . g.5366
ctccgccgctcgtcgcctccccccggccaccaggcccggctggtttcccagccccgctcc c.-61
. . . . . . g.5426
gccgcggcgcgaggtctatgtgaccggcgggcccggagcagccgccgccgcagcgcgaac c.-1
. . . | 02 . . . g.30791
ATGGACGCCGTCAACGCCTTCAACCAGGAG | CTCTTTTCGCTTATGGATATGAAACCTCCC c.60
M D A V N A F N Q E | L F S L M D M K P P p.20
. . . . . | 03 . g.31657
ATCTCTAGAGCCAAGATGATTCTCATCACTAAAGCTGCTATTAAAGCTATTAAG | CTTTAT c.120
I S R A K M I L I T K A A I K A I K | L Y p.40
. . . | 04 . . g.33213
AAGCATGTAGTTCAAATAGTAGAAAAGTTCATCAAAAAG | TGTAAACCAGAATACAAGGTT c.180
K H V V Q I V E K F I K K | C K P E Y K V p.60
. . . . . . g.33273
CCGGGATTATATGTAATTGACTCAATTGTGCGACAGTCTCGTCATCAGTTTGGAACTGAT c.240
P G L Y V I D S I V R Q S R H Q F G T D p.80
. . . . . . g.33333
AAAGATGTTTTTGGGCCAAGATTCTCTAAAAACATAACTGCCACATTCCAATATTTATAT c.300
K D V F G P R F S K N I T A T F Q Y L Y p.100
. . | 05 . . . . g.34778
CTTTGTCCATCTGAAGATAAG | AGTAAAATAGTTCGTGTGCTGAACCTTTGGCAAAAAAAT c.360
L C P S E D K | S K I V R V L N L W Q K N p.120
. . . . . . g.34838
GGAGTGTTCAAAATTGAAATTATTCAACCTCTTTTGGACATGGCAGCGGGAACCAGTAAT c.420
G V F K I E I I Q P L L D M A A G T S N p.140
. . . | 06. . . g.35223
GCAGCCCCAGTAGCAGAAAATGTTACCAATAATGAAG | GCTCACCTCCACCTCCAGTAAAA c.480
A A P V A E N V T N N E G | S P P P P V K p.160
. . . . . . g.35283
GTTTCTTCTGAACCTCCCACACAAGCCACTCCAAACTCCGTCCCAGCTGTACCACAGTTG c.540
V S S E P P T Q A T P N S V P A V P Q L p.180
. . . . . . g.35343
CCCAGCTCTGATGCTTTTGCTGCTGTGGCTCAGCTGTTTCAGACAACTCAAGGCCAACAG c.600
P S S D A F A A V A Q L F Q T T Q G Q Q p.200
| 07 . . . . . . g.36007
| CTTCAGCAGATCCTTCAGACTTTTCAACAGCCTCCAAAACCACAGTCTCCTGCCCTTGAC c.660
| L Q Q I L Q T F Q Q P P K P Q S P A L D p.220
. . . . . . g.36067
AATGCTGTGATGGCTCAGGTTCAGGCTATCACAGCTCAGTTAAAGACAACTCCTACACAA c.720
N A V M A Q V Q A I T A Q L K T T P T Q p.240
. . . . . | 08. g.40371
CCATCTGAACAAAAAGCTGCTTTCCCCCCACCTGAACAGAAAACTGCATTTGACAAG | AAG c.780
P S E Q K A A F P P P E Q K T A F D K | K p.260
. . . . . . g.40431
TTGCTTGATAGATTTGACTATGATGATGAGCCAGAAGCTGTGGAAGAATCAAAGAAAGAG c.840
L L D R F D Y D D E P E A V E E S K K E p.280
. . . . . . g.40491
GATACCACTGCCGTCACCACGACAGCACCTGCTGCCGCAGTACCCCCTGCACCCACCGCC c.900
D T T A V T T T A P A A A V P P A P T A p.300
. . . . . | 09 g.40898
ACCGTGCCTGCTGCTGCTGCACCCGCTGCTGCCTCTCCTCCTCCTCCACAGGCACCATT | T c.960
T V P A A A A P A A A S P P P P Q A P F | p.320
. . . . . . g.40958
GGCTTTCCTGGAGATGGCATGCAGCAGCCAGCATACACACAGCATCAAAATATGGATCAG c.1020
G F P G D G M Q Q P A Y T Q H Q N M D Q p.340
. . . . | 10 . g.42150
TTTCAGCCACGAATGATGGGAATACAACAGGATCCAATGCACCATCAG | GTTCCACTTCCT c.1080
F Q P R M M G I Q Q D P M H H Q | V P L P p.360
. . . . . . g.42210
CCTAATGGACAAATGCCAGGATTTGGACTTCTTCCTACACCTCCATTTCCTCCCATGGCT c.1140
P N G Q M P G F G L L P T P P F P P M A p.380
. . . . . . g.42270
CAGCCTGTGATTCCTCCAACTCCACCAGTGCAGCAGCCTTTCCAAGCTTCTTTTCAGGCA c.1200
Q P V I P P T P P V Q Q P F Q A S F Q A p.400
. . . | 11 . . . g.42853
CAAAATGAACCACTTACACAGAAGCCGCATCAGCAG | GAAATGGAAGTAGAACAACCTTGT c.1260
Q N E P L T Q K P H Q Q | E M E V E Q P C p.420
. . . . . . g.42913
ATTCAAGAGGTTAAGCGACATATGTCTGATAACAGAAAGTCAAGATCTAGGTCAGCATCC c.1320
I Q E V K R H M S D N R K S R S R S A S p.440
| 12 . . . . . . g.43692
AG | GTCACCAAAAAGGAGGCGATCTAGATCTGGTTCTAGATCTCGAAGGTCTCGGCATCGA c.1380
R | S P K R R R S R S G S R S R R S R H R p.460
. . . . . . g.43752
CGTTCTCGATCTCGGTCCAGGGATAGACGCCGACATTCTCCCCGATCTCGATCTCAAGAA c.1440
R S R S R S R D R R R H S P R S R S Q E p.480
. . . . . . g.43812
AGACGGGATCGAGAAAAAGAGAGAGAACGTCGACAAAAAGGCCTCCCTCAAGTGAAACCG c.1500
R R D R E K E R E R R Q K G L P Q V K P p.500
. | 13 . . . . . g.44716
GAAACTGCAAGTG | TTTGCAGTACTACCCTCTGGGTGGGGCAGCTGGACAAAAGAACTACT c.1560
E T A S V | C S T T L W V G Q L D K R T T p.520
. . . . . | 14 . g.45194
CAGCAGGATGTTGCCAGTCTCTTGGAAGAGTTTGGTCCAATTGAATCAATTAAT | ATGATT c.1620
Q Q D V A S L L E E F G P I E S I N | M I p.540
. . . . . . g.45254
CCTCCCAGGGGTTGTGCCTATATTGTTATGGTTCATAGGCAAGATGCCTATCGTGCCCTG c.1680
P P R G C A Y I V M V H R Q D A Y R A L p.560
. . . . | 15 . g.46177
CAGAAACTGAGCCGAGGAAACTATAAAGTGAACCAGAAATCCATAAAG | ATTGCCTGGGCC c.1740
Q K L S R G N Y K V N Q K S I K | I A W A p.580
. . . . . . g.46237
TTAAACAAAGGAATAAAGGCAGATTATAAGCAGTATTGGGATGTAGAACTTGGTGTTACT c.1800
L N K G I K A D Y K Q Y W D V E L G V T p.600
. . . . . . g.46297
TATATTCCATGGGACAAAGTCAAGCCTGAGGAACTGGAGAGTTTTTGTGAAGGAGGAATG c.1860
Y I P W D K V K P E E L E S F C E G G M p.620
. . | 16 . . . . g.48689
TTGGACAGTGACACACTTAACCCAG | ATTGGAAAGGAATTCCTAAGAAGCCTGAAAATGAA c.1920
L D S D T L N P D | W K G I P K K P E N E p.640
. . . . . . g.48749
GTTGCTCAAAATGGAGGTGCTGAAACCTCACACACAGAACCAGTATCACCCATACCTAAA c.1980
V A Q N G G A E T S H T E P V S P I P K p.660
. . . . . . g.48809
CCATTACCTGTGCCTGTCCCTCCTATTCCTGTTCCTGCACCTATAACAGTGCCACCTCCA c.2040
P L P V P V P P I P V P A P I T V P P P p.680
| 17 . . . . . . g.51442
CAG | GTCCCACCACATCAACCGGGTCCACCTGTAGTTGGTGCTCTCCAGCCGCCTGCTTTC c.2100
Q | V P P H Q P G P P V V G A L Q P P A F p.700
. . . . . . g.51502
ACGCCTCCTCTGGGAATACCGCCTCCAGGCTTTGGTCCTGGTGTTCCTCCTCCCCCTCCT c.2160
T P P L G I P P P G F G P G V P P P P P p.720
. . . . | 18 . g.51645
CCTCCACCATTTTTGCGCCCAGGATTCAACCCAATGCATTTACCACCAG | GTTTTCTGCCT c.2220
P P P F L R P G F N P M H L P P G | F L P p.740
. . . . . . g.51705
CCTGGACCCCCACCTCCTATAACTCCACCAGTATCCATTCCTCCTCCTCACACTCCACCA c.2280
P G P P P P I T P P V S I P P P H T P P p.760
. | 19 . . . . . g.51922
ATAAGCATCCCAAACT | CTACTATCGCTGGTATAAATGAAGACACTACAAAAGACTTATCT c.2340
I S I P N S | T I A G I N E D T T K D L S p.780
. . . . . . g.51982
ATTGGAAATCCCATTCCAACAGTGGTGTCTGGGGCTAGAGGAAACGCCGAGTCTGGTGAC c.2400
I G N P I P T V V S G A R G N A E S G D p.800
. . . . . . g.52042
AGCGTGAAAATGTATGGCTCTGCCGTGCCACCTGCTGCACCCACGAATCTGCCCACCCCT c.2460
S V K M Y G S A V P P A A P T N L P T P p.820
. . | 20 . . . g.64796
CCTGTAACCCAGCCTGTTTCACTTCTTG | GCACTCAAGGAGTTGCCCCTGGTCCTGTAATT c.2520
P V T Q P V S L L G | T Q G V A P G P V I p.840
. . . . . . g.64856
GGACTTCAGGCACCATCTACTGGTCTTCTTGGCGCCCGGCCCGGTCTCATCCCACTCCAG c.2580
G L Q A P S T G L L G A R P G L I P L Q p.860
. . . . . . g.64916
CGCCCTCCAGGAATGCCCCCACCTCACTTACAGCGGTTCCCTTTGATGCCGCCCCGTCCC c.2640
R P P G M P P P H L Q R F P L M P P R P p.880
. . . . . . g.64976
ATGCCACCGCACATGATGCACAGAGGCCCACCGCCAGGACCAGGGGGCTTTGCGATGCCT c.2700
M P P H M M H R G P P P G P G G F A M P p.900
. . . . . . g.65036
CCACCTCATGGAATGAAAGGTCCCTTCCCACCGCATGGCCCCTTTGTTAGGCCTGGTGGA c.2760
P P H G M K G P F P P H G P F V R P G G p.920
. . . . . . g.65096
ATGCCAGGGCTCGGGGGCCCAGGGCCAGGCCCAGGGGGTCCTGAAGACAGAGACGGAAGG c.2820
M P G L G G P G P G P G G P E D R D G R p.940
. . . . . . g.65156
CAACAGCCGCCGCAGCAGCCACAGCAGCAGCCACAGCCGCAGGCGCCCCAGCAACCACAG c.2880
Q Q P P Q Q P Q Q Q P Q P Q A P Q Q P Q p.960
. . . . . . g.65216
CAGCAGCAGCAGCAGCAGCCACCACCATCACAACAGCCTCCACCAACACAGCAGCAGCCA c.2940
Q Q Q Q Q Q P P P S Q Q P P P T Q Q Q P p.980
. . . . . . g.65276
CAGCAGTTTAGAAATGATAACAGGCAGCAGTTCAATTCAGGTAGAGACCAAGAAAGGTTT c.3000
Q Q F R N D N R Q Q F N S G R D Q E R F p.1000
. . . . . . g.65336
GGAAGAAGATCTTTTGGAAATAGGGTGGAAAATGACCGGGAACGGTATGGGAACCGTAAT c.3060
G R R S F G N R V E N D R E R Y G N R N p.1020
. . . . . . g.65396
GATGATAGAGATAATAGTAACCGTGACAGGAGAGAGTGGGGAAGGAGGAGCCCTGACCGG c.3120
D D R D N S N R D R R E W G R R S P D R p.1040
. . . . . . g.65456
GACAGGCACAGAGACTTGGAAGAGAGAAATAGACGCTCTAGTGGGCATCGAGACAGAGAG c.3180
D R H R D L E E R N R R S S G H R D R E p.1060
. . . . . . g.65516
AGAGATTCTAGAGATAGAGAGTCTCGTAGAGAGAAGGAAGAAGCCCGAGGAAAGGAAAAG c.3240
R D S R D R E S R R E K E E A R G K E K p.1080
. . . . . . g.65576
CCTGAGGTGACAGACAGGGCAGGTGGTAACAAAACCGTTGAACCTCCCATTAGCCAAGTG c.3300
P E V T D R A G G N K T V E P P I S Q V p.1100
. . . . . . g.65636
GGAAATGTAGACACTGCTTCAGAACTTGAGAAGGGGGTGTCTGAGGCTGCAGTCCTAAAG c.3360
G N V D T A S E L E K G V S E A A V L K p.1120
. . . . . . g.65696
CCTTCTGAAGAGTTACCTGCTGAGGCTACCTCATCCGTTGAACCCGAAAAGGATTCTGGC c.3420
P S E E L P A E A T S S V E P E K D S G p.1140
. . g.65720
TCAGCAGCAGAGGCTCCTCGTTAG c.3444
S A A E A P R X p.1147
. . . . . . g.65780
agactggaatttgtgaaaatgtgacagtgacacttcctggagtgtagagcttgaggtgta c.*60
. . . . . . g.65840
cagatgctgtattatatccgctcccgctgtactgcagccccgcgccagctggtggggaac c.*120
. . . . . . g.65900
tgtaagcaatttgattgcttcccttctatttaaaaatagccacaaaataacaaaaaatac c.*180
. . . . . . g.65960
tgaaaatatgaataaatattaccctttttgctgtaactttttaaaagttttgactttaaa c.*240
. . . . . . g.66020
aagtttacaaatcgtaattagaagtgctctctatttttttttttttttttaatttaagac c.*300
. . . . . . g.66080
aaggtaacggtgaaagctcctcaaaacaatagggatgtttttaataaactctattttcgt c.*360
. . . g.66119
aacaaactttaatgtgtgctattcttcctacactgcatt c.*399
(downstream sequence)
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