(used for variant description)
(last modified March 27, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_145064.1 in the STAC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering STAC3 transcript NM_145064.1.
(upstream sequence)
. g.5015
atttcagccctgaca c.-181
. . . . . . g.5075
ccaaggcaggaggctaggaggtctacaaatagcgactgggtagctggtgtgaacacaggg c.-121
. . . . . . g.5135
ggtactgggggggcttagcccccaaggaagaggaccagtttttccccagcaccaccatca c.-61
. . . . . . | 02 g.6550
aggcctcgaggctcccagctccctctacagcctgtggactgacttagggaatcccgaac | g c.-1
. . . . . . g.6610
ATGACAGAAAAGGAGGTGCTGGAGTCCCCTAAGCCCTCCTTCCCAGCAGAGACTCGGCAA c.60
M T E K E V L E S P K P S F P A E T R Q p.20
| 03 . . . . . . g.6932
AGTGGG | CTACAGCGGCTAAAGCAGTTACTCAGGAAGGGTTCTACAGGGACAAAGGAGATG c.120
S G | L Q R L K Q L L R K G S T G T K E M p.40
. . . . . . g.6992
GAACTTCCCCCAGAGCCCCAGGCCAATGGGGAGGCAGTGGGAGCTGGGGGTGGGCCCATC c.180
E L P P E P Q A N G E A V G A G G G P I p.60
. . . . . . g.7052
TACTACATCTATGAGGAAGAGGAAGAGGAAGAAGAGGAGGAGGAGGAGCCACCCCCAGAA c.240
Y Y I Y E E E E E E E E E E E E P P P E p.80
. . . . . . g.7112
CCTCCTAAGCTGGTCAACGATAAGCCCCACAAATTCAAAGATCACTTCTTCAAGAAGCCA c.300
P P K L V N D K P H K F K D H F F K K P p.100
. . . | 04 . . . g.7409
AAGTTCTGTGATGTCTGTGCCCGGATGATTGTTC | TCAACAACAAGTTTGGGCTTCGCTGT c.360
K F C D V C A R M I V L | N N K F G L R C p.120
. . . . . . g.7469
AAGAACTGCAAAACCAACATCCATGAACACTGTCAGTCCTATGTGGAAATGCAGAGATGC c.420
K N C K T N I H E H C Q S Y V E M Q R C p.140
. | 05 . . . . . g.8036
TTCGGCAAGATC | CCACCTGGTTTCCATCGGGCCTATAGTTCCCCACTCTACAGCAACCAG c.480
F G K I | P P G F H R A Y S S P L Y S N Q p.160
. . | 06 . . . . g.9320
CAGTACGCTTGTGTCAAAGATCTCT | CTGCTGCCAATCGCAATGATCCTGTGTTTGAAACC c.540
Q Y A C V K D L S | A A N R N D P V F E T p.180
. . . . . . g.9380
CTGCGCACTGGGGTGATCATGGCAAACAAGGAACGGAAGAAGGGACAGGCAGATAAGAAA c.600
L R T G V I M A N K E R K K G Q A D K K p.200
| 07 . . . . . . g.11032
AAT | CCTGTAGCAGCCATGATGGAGGAGGAGCCAGAGTCGGCCAGACCAGAGGAAGGCAAA c.660
N | P V A A M M E E E P E S A R P E E G K p.220
. | 08 . . . . . g.11271
CCCCAGGATG | GAAACCCTGAAGGGGATAAGAAGGCTGAGAAGAAGACACCTGATGACAAG c.720
P Q D G | N P E G D K K A E K K T P D D K p.240
| 09 . . . . . . g.11624
| CACAAGCAGCCTGGCTTCCAGCAGTCTCATTACTTTGTGGCTCTCTATCGGTTCAAAGCC c.780
| H K Q P G F Q Q S H Y F V A L Y R F K A p.260
. . | 10 . . . . g.11854
CTGGAGAAGGACGATCTGGATTTCCC | GCCAGGAGAGAAGATCACAGTCATTGATGACTCC c.840
L E K D D L D F P | P G E K I T V I D D S p.280
. | 11 . . . . g.12003
AATGAAGAATGGTGGCGG | GGGAAAATCGGGGAGAAGGTCGGATTTTTCCCTCCAAACTTC c.900
N E E W W R | G K I G E K V G F F P P N F p.300
. . . . . . g.12063
ATCATTCGGGTCCGGGCTGGAGAACGTGTGCACCGCGTGACGAGATCCTTCGTGGGGAAC c.960
I I R V R A G E R V H R V T R S F V G N p.320
. . . | 12 . . . g.12300
CGCGAGATAGGGCAGATCACTCTCAAGAAGGACCAG | ATCGTGGTGCAGAAAGGAGACGAA c.1020
R E I G Q I T L K K D Q | I V V Q K G D E p.340
. . . . . . g.12360
GCGGGCGGCTACGTCAAGGTCTACACCGGCCGCAAGGTGGGGCTGTTTCCCACCGACTTT c.1080
A G G Y V K V Y T G R K V G L F P T D F p.360
. g.12375
CTAGAGGAAATTTAG c.1095
L E E I X p.364
. . . . . . g.12435
gcgtgcgggcgcctgcaagcgggagacacccacaccccattctgggcgggcccagtggag c.*60
. . . . . . g.12495
tttggggaggggggcgaaagcaacgggactgctgggagaggaggggtaggaaggcccgcc c.*120
. . . . . . g.12555
tgagcgcgacggggcttccgggaagggactggttctcgcccccttccccagcctggggcc c.*180
. . . . . . g.12615
tcggatacctgctgcccagagcagcccggacccgaaacctttcaggccccgcttgcaaga c.*240
. . . . . . g.12675
gctggaaaaaaacgcgtatctactaggaggagccagggactggggcggggggcgggggcg c.*300
. . . . . g.12728
agggagggcgaactgtcgaatgttgcgaatttattaaacttttgacaaaactt c.*353
(downstream sequence)
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