Linked Data
dbSNP Id:
rs746936605
gnomAD v3:
12-32796308-G-GAAAAAAAAAA
gnomAD v4:
12-32796308-G-GAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796309_32796318dup , CM000674.2:g.32796309_32796318dup | GRCh38 |
| NC_000012.11:g.32949243_32949252dup , CM000674.1:g.32949243_32949252dup | GRCh37 |
| NC_000012.10:g.32840510_32840519dup | NCBI36 |
| NG_009000.1:g.105529_105538dup , LRG_398:g.105529_105538dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.671-20_671-11dup | ||
| ENST00000700557.2:n.260-20_260-11dup | ||
| ENST00000700559.2:c.2168-3587_2168-3578dup | ENSP00000515065.2:n.2168-3587_2168-3578dup | |
| ENST00000546498.2:n.855-20_855-11dup | ||
| ENST00000549461.2:n.660-20_660-11dup | ||
| ENST00000700555.1:c.599-20_599-11dup | ENSP00000515062.1:n.599-20_599-11dup | |
| ENST00000700556.1:c.639-20_639-11dup | ||
| ENST00000700557.1:c.179-20_179-11dup | ENSP00000515064.1:n.179-20_179-11dup | |
| ENST00000700558.1:n.382-20_382-11dup | ||
| ENST00000700559.1:c.1383-3587_1383-3578dup | ||
| ENST00000700560.1:n.1383-20_1383-11dup | ||
| ENST00000700561.1:n.1509-20_1509-11dup | ||
| ENST00000070846.11:c.2300-20_2300-11dup | ENSP00000070846.6:n.2300-20_2300-11dup | |
| ENST00000340811.9:c.2168-20_2168-11dup MANE Select | ENSP00000342800.5:n.2168-20_2168-11dup | |
| ENST00000070846.10:c.2300-20_2300-11dup | ENSP00000070846.6:n.2300-20_2300-11dup | |
| ENST00000340811.8:c.2168-20_2168-11dup | ENSP00000342800.4:n.2168-20_2168-11dup | |
| ENST00000613243.1:c.2300-20_2300-11dup | ENSP00000478295.1:n.2300-20_2300-11dup | |
| NM_001005242.2:c.2168-20_2168-11dup | NP_001005242.2:n.2168-20_2168-11dup | |
| NM_004572.3:c.2300-20_2300-11dup , LRG_398t1:c.2300-20_2300-11dup | NP_004563.2:n.2300-20_2300-11dup | |
| NM_001005242.3:c.2168-20_2168-11dup MANE Select | NP_001005242.2:n.2168-20_2168-11dup | |
| NM_004572.4:c.2300-20_2300-11dup | NP_004563.2:n.2300-20_2300-11dup |