(used for variant description)
(last modified February 25, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_199242.2 in the UNC13D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007266.1, covering UNC13D transcript NM_199242.2.
(upstream sequence)
. . g.5020
gttcagcccagcctgggcac c.-361
. . . . . . g.5080
agcacatggatggggcaggatgctgcccgcctgttctgggcccccccgccccctgctgag c.-301
. . . . . . g.5140
agcgttgtccccttcccagggcctctgtaggagggtggggcggggccaggcctgcccacg c.-241
. . . . . . g.5200
gggtccaccttctgctccagccagaggagggtcctgtagggatcccagctggggaaggtg c.-181
. . . . . . g.5260
cagggggcctgggagactgcctctccgaagcggtgaaaccctcacccttccgtccctccc c.-121
. . . . . . g.5320
agccaccctccctaaaacttcccctgacagagggtggcagccccaggctctttgcataat c.-61
. . . . . . g.5380
cctgtggcttcgctgtcttcacccagcaccagcggacagggaagggcagagaaggccacc c.-1
. . . . . . g.5440
ATGGCGACACTCCTCTCCCATCCGCAGCAGCGCCCTCCCTTCTTGCGCCAGGCCATCAAG c.60
M A T L L S H P Q Q R P P F L R Q A I K p.20
. . . . . | 02. g.6201
ATAAGGCGCCGCAGAGTCAGAGATCTACAGGATCCCCCGCCCCAAATGGCCCCGGAG | ATC c.120
I R R R R V R D L Q D P P P Q M A P E | I p.40
. . . | 03 . . . g.6478
CAGCCTCCATCCCACCACTTCTCCCCCGAGCAG | CGGGCCCTGCTCTACGAGGACGCACTC c.180
Q P P S H H F S P E Q | R A L L Y E D A L p.60
. . . . . . g.6538
TACACTGTCTTGCACCGCCTGGGTCATCCTGAGCCCAACCATGTGACGGAGGCCTCTGAG c.240
Y T V L H R L G H P E P N H V T E A S E p.80
. . | 04 . . . . g.6683
CTGCTGCGATACCTGCAGGAG | GCCTTCCACGTGGAGCCCGAGGAGCACCAGCAGACACTG c.300
L L R Y L Q E | A F H V E P E E H Q Q T L p.100
. . | 05 . . . . g.6833
CAGCGGGTCAGGGAGCTTGAG | AAGCCAATATTTTGTCTGAAGGCAACAGTGAAACAGGCC c.360
Q R V R E L E | K P I F C L K A T V K Q A p.120
. . | 06 . . . g.7136
AAGGGCATTCTGGGCAAAGATGTCAGTG | GGTTCAGCGACCCCTACTGCCTGCTGGGCATT c.420
K G I L G K D V S G | F S D P Y C L L G I p.140
. . . . . . g.7196
GAGCAGGGGGTAGGTGTGCCAGGGGGCAGCCCCGGGTCCCGGCATCGGCAGAAGGCTGTG c.480
E Q G V G V P G G S P G S R H R Q K A V p.160
. . . . . . g.7256
GTGAGGCACACCATCCCCGAGGAGGAGACCCACCGCACGCAGGTCATCACCCAGACACTC c.540
V R H T I P E E E T H R T Q V I T Q T L p.180
. . | 07 . . . g.8747
AACCCCGTCTGGGACGAGACCTTCATCCT | GGAGTTTGAGGACATCACCAATGCGAGCTTT c.600
N P V W D E T F I L | E F E D I T N A S F p.200
. | 08 . . . . . g.8933
CATCTGGACATGTG | GGACCTGGACACTGTGGAGTCTGTCCGACAGAAGCTTGGGGAGCTC c.660
H L D M W | D L D T V E S V R Q K L G E L p.220
. . | 09 . . . . g.9178
ACGGATCTGCATGGGCTTCGCAG | GATCTTTAAAGAGGCCCGGAAGGACAAAGGCCAGGAC c.720
T D L H G L R R | I F K E A R K D K G Q D p.240
. . . | 10 . . . g.9415
GACTTTCTGGGGAACGTGGTTCTGAGGCTGCAG | GACCTGCGCTGCCGAGAGGACCAGTGG c.780
D F L G N V V L R L Q | D L R C R E D Q W p.260
. . . . . . g.9475
TACCCCCTGGAACCCCGCACTGAGACCTACCCAGACCGAGGCCAGTGCCACCTCCAGTTC c.840
Y P L E P R T E T Y P D R G Q C H L Q F p.280
. | 11 . . . . g.9649
CAACTCATCCATAAGCGG | AGAGCCACTTCGGCCAGCCGCTCGCAGCCGAGCTACACCGTG c.900
Q L I H K R | R A T S A S R S Q P S Y T V p.300
. . . . . | 12 . g.9784
CACCTCCACCTCCTGCAGCAGCTTGTGTCCCACGAGGTCACCCAGCACGAG | GCGGGAAGC c.960
H L H L L Q Q L V S H E V T Q H E | A G S p.320
. . . . . . g.9844
ACCTCCTGGGACGGGTCGCTGAGTCCCCAGGCTGCCACCGTCCTCTTTCTGCACGCCACA c.1020
T S W D G S L S P Q A A T V L F L H A T p.340
. . . | 13 . . . g.12824
CAGAAGGACCTATCCGACTTCCACCAGTCCATGGC | GCAGTGGCTGGCCTACAGCCGCCTC c.1080
Q K D L S D F H Q S M A | Q W L A Y S R L p.360
. . . . . . g.12884
TACCAGAGCCTGGAGTTCCCCAGCAGCTGCCTCCTGCACCCCATCACCAGCATCGAGTAC c.1140
Y Q S L E F P S S C L L H P I T S I E Y p.380
. . . | 14 . . . g.13048
CAGTGGATCCAGGGTCGGCTCAAGGCAGAACAG | CAGGAGGAGCTGGCCGCCTCATTCAGC c.1200
Q W I Q G R L K A E Q | Q E E L A A S F S p.400
. . . . . . g.13108
TCCCTGCTGACCTACGGCCTCTCCCTCATCCGGAGGTTCCGCTCTGTCTTCCCCCTCTCT c.1260
S L L T Y G L S L I R R F R S V F P L S p.420
. . . | 15 . . g.13310
GTCTCGGACTCCCCAGCCCGGCTGCAGTCTCTTCTCAG | GGTCCTGGTACAGATGTGCAAG c.1320
V S D S P A R L Q S L L R | V L V Q M C K p.440
. . . . . . g.13370
ATGAAGGCCTTTGGAGAACTGTGCCCCAACACCGCCCCATTGCCCCAGCTGGTGACTGAG c.1380
M K A F G E L C P N T A P L P Q L V T E p.460
| 16 . . . . . g.13512
GCCCTGCAG | ACTGGCACCACTGAATGGTTCCACCTGAAGCAGCAGCACCATCAACCCATG c.1440
A L Q | T G T T E W F H L K Q Q H H Q P M p.480
| 17 . . . . . . g.13662
GTGCAG | GGCATCCCGGAGGCAGGCAAGGCCTTGCTGGGCCTGGTACAGGATGTCATTGGC c.1500
V Q | G I P E A G K A L L G L V Q D V I G p.500
. . . . | 18 . . g.13827
GACCTGCACCAGTGCCAGCGCACATGGGACAAGATCTTCCACAA | TACCCTCAAGATCCAC c.1560
D L H Q C Q R T W D K I F H N | T L K I H p.520
. . . | 19 . . . g.13964
CTCTTCTCCATGGCTTTCCGGGAGCTGCAGTGGCTG | GTGGCCAAGCGGGTGCAGGACCAC c.1620
L F S M A F R E L Q W L | V A K R V Q D H p.540
. . . . . . g.14024
ACGACGGTTGTGGGTGATGTAGTGTCCCCAGAGATGGGCGAGAGTCTGTTCCAGCTCTAC c.1680
T T V V G D V V S P E M G E S L F Q L Y p.560
. . . . | 20. . g.14201
ATCAGCCTCAAGGAGCTCTGCCAGCTGCGCATGAGCTCCTCAGAGAG | GGATGGAGTCCTG c.1740
I S L K E L C Q L R M S S S E R | D G V L p.580
. . . . . . g.14261
GCCCTGGATAATTTCCACCGCTGGTTCCAGCCGGCCATCCCCTCCTGGCTGCAGAAGACG c.1800
A L D N F H R W F Q P A I P S W L Q K T p.600
. . . . | 21 . g.14666
TACAACGAGGCCCTGGCGCGGGTGCAGCGCGCTGTGCAGATGGATGAG | CTGGTGCCCCTG c.1860
Y N E A L A R V Q R A V Q M D E | L V P L p.620
. . . . . . g.14726
GGTGAACTGACCAAGCACAGCACATCAGCGGTGGATCTATCCACCTGCTTTGCCCAGATC c.1920
G E L T K H S T S A V D L S T C F A Q I p.640
. . . . . . g.14786
AGCCACACTGCCCGGCAGCTGGACTGGCCAGACCCAGAGGAGGCCTTCATGATTACCGTC c.1980
S H T A R Q L D W P D P E E A F M I T V p.660
. | 22 . . . . . g.15049
AAGTTTGTGGAG | GACACCTGTCGCCTGGCCCTGGTGTACTGCAGCCTTATAAAGGCCCGG c.2040
K F V E | D T C R L A L V Y C S L I K A R p.680
. . . . . | 23 . g.15195
GCCCGCGAGCTCTCTTCAGGCCAGAAGGACCAAGGCCAGGCAGCCAACATG | CTGTGTGTG c.2100
A R E L S S G Q K D Q G Q A A N M | L C V p.700
. . . . . . g.15255
GTGGTGAATGACATGGAGCAGCTGCGGCTGGTGATCGGCAAGTTGCCCGCCCAGCTGGCA c.2160
V V N D M E Q L R L V I G K L P A Q L A p.720
. . . . . . g.15315
TGGGAGGCCCTGGAGCAGCGGGTAGGGGCCGTGCTGGAGCAGGGGCAGCTGCAGAACACG c.2220
W E A L E Q R V G A V L E Q G Q L Q N T p.740
. . . . . . g.15375
CTGCATGCCCAGCTGCAGAGCGCGCTGGCCGGGCTGGGCCATGAGATCCGCACTGGCGTC c.2280
L H A Q L Q S A L A G L G H E I R T G V p.760
. | 24 . . . . g.15616
CGCACCCTGGCCGAGCAG | TTGGAGGTGGGCATCGCCAAGCACATCCAGAAACTGGTGGGC c.2340
R T L A E Q | L E V G I A K H I Q K L V G p.780
. . | 25. . . . g.16705
GTCAGGGAGTCTGTCCTGCCTGAGGAT | GCCATTCTGCCCCTGATGAAGTTCCTGGAGGTG c.2400
V R E S V L P E D | A I L P L M K F L E V p.800
. . . . | 26. . g.18382
GAGCTTTGCTACATGAACACCAACTTGGTGCAGGAGAACTTCAGCAG | CCTCCTGACCCTG c.2460
E L C Y M N T N L V Q E N F S S | L L T L p.820
. . . . . . g.18442
CTCTGGACCCACACACTCACAGTGCTGGTGGAGGCGGCCGCCTCCCAGCGCAGCTCATCC c.2520
L W T H T L T V L V E A A A S Q R S S S p.840
. . . | 27 . . . g.18575
CTGGCTTCCAACAGGCTGAAGATTGCCCTGCAG | AACCTGGAGATCTGCTTCCACGCTGAG c.2580
L A S N R L K I A L Q | N L E I C F H A E p.860
. . . . | 28 . . g.19071
GGCTGTGGCCTGCCACCCAAGGCCCTGCACACTGCCACCTTCCAG | GCTCTGCAGAGGGAC c.2640
G C G L P P K A L H T A T F Q | A L Q R D p.880
. . . . . . g.19131
CTGGAGCTGCAGGCGGCCTCCAGCCGGGAACTCATCCGGAAGTACTTCTGCAGCCGAATC c.2700
L E L Q A A S S R E L I R K Y F C S R I p.900
| 29 . . . . . g.19286
CAGCAGCAG | GCAGAAACCACCTCTGAGGAGCTGGGGGCTGTGACAGTCAAGGCCTCCTAC c.2760
Q Q Q | A E T T S E E L G A V T V K A S Y p.920
. . . . . . g.19346
CGCGCCTCTGAGCAGAAGCTGCGTGTGGAGCTGCTCAGCGCCTCCAGCCTGCTGCCCCTG c.2820
R A S E Q K L R V E L L S A S S L L P L p.940
. | 30 . . . . . g.19616
GACTCCAATG | GCTCCAGCGACCCCTTTGTCCAGCTGACCTTGGAGCCCAGGCATGAGTTC c.2880
D S N G | S S D P F V Q L T L E P R H E F p.960
. . . . . . g.19676
CCTGAGCTGGCCGCCCGGGAGACCCAGAAGCACAAGAAGGACCTTCACCCATTGTTTGAT c.2940
P E L A A R E T Q K H K K D L H P L F D p.980
. | 31 . . . . . g.20780
GAGACCTTTGAATT | CCTGGTGCCTGCTGAGCCGTGCCGCAAGGCTGGGGCATGCCTCCTG c.3000
E T F E F | L V P A E P C R K A G A C L L p.1000
. . . . . . g.20840
CTCACCGTGCTGGACTACGACACGCTGGGGGCCGACGACCTGGAAGGCGAGGCCTTCCTG c.3060
L T V L D Y D T L G A D D L E G E A F L p.1020
. . . . . . g.20900
CCGCTGCGTGAGGTGCCCGGGCTGAGTGGCTCTGAGGAGCCTGGTGAGGTGCCTCAGACC c.3120
P L R E V P G L S G S E E P G E V P Q T p.1040
. . . | 32 . . . g.21660
CGCCTGCCCCTCACGTACCCCGCACCCAACG | GGGACCCAATCCTGCAGCTGCTGGAGGGC c.3180
R L P L T Y P A P N G | D P I L Q L L E G p.1060
. . . . . . g.21720
CGGAAGGGTGACCGAGAAGCCCAGGTCTTTGTGAGGCTGCGGCGGCACCGGGCCAAGCAG c.3240
R K G D R E A Q V F V R L R R H R A K Q p.1080
. . . g.21753
GCCTCCCAGCATGCCTTGCGGCCGGCACCGTAG c.3273
A S Q H A L R P A P X p.1090
. . . . . . g.21813
ccgtagaggtttgcggtggggctgggtccccggtggggacttgcaagggctttcctgtag c.*60
. . . . . . g.21873
ggtctggggcttccccgccacatcgcggccctccagcctggcctaacacttggggagccc c.*120
. . . . . . g.21933
cagcatgcggagtgcccagagtgcagacctcccctgcctcccatggtgatgggggctcag c.*180
. . . . . . g.21993
cagcgacatctctactcccgcctccctgcctccagccctggctgcaatgtctctaccaca c.*240
. . . . . . g.22053
tcccagcaccagggggagcaaaccctgcccctgcccgcctctcagaaaagctgctgtggt c.*300
. . . . . . g.22113
gggcaggggattgggccatctgtctcctggccctggcccatctgcctcctggccttcctg c.*360
. . . . . . g.22173
ttccagccactggggtgggggccaggttcactgggaccagggctacaggcacagagtctc c.*420
. . . . . . g.22233
ctggaaaagggagaggggaccctgccaaagatgaggctccagctgccctggggggagggt c.*480
. . . . . . g.22293
ggtggccattactagagggggcctgggtcctctccccaggggctgccagcatccaggcca c.*540
. . . . . . g.22353
ggaagcctggagccaagaaccttctggctctgagggagcaagagctggcaggcggcaggg c.*600
. . . . . . g.22413
ctggcacagacagacggaagcagaaaggacagtttggctgctgtgtctgctgcgcacgcc c.*660
. . . . . . g.22473
ccctccccggacagcacctgccacctagaaactttcttagcaaaaaaattaataaaaaca c.*720
. . g.22493
aatccattgtcctcttaaaa c.*740
(downstream sequence)
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