Linked Data
dbSNP Id:
rs1566241353
gnomAD v2:
12-124156024-C-CTA
gnomAD v4:
12-123671477-C-CTA
MyVariant Identifiers:
chr12:g.124156025_124156027delinsTACCT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123671477_123671478insTA , CM000674.2:g.123671477_123671478insTA | GRCh38 |
| NC_000012.11:g.124156024_124156025insTA , CM000674.1:g.124156024_124156025insTA | GRCh37 |
| NC_000012.10:g.122721977_122721978insTA | NCBI36 |
| NG_030442.1:g.5365_5366insTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.83-30_83-29insTA MANE Select | ENSP00000304941.5:n.83-30_83-29insTA | |
| ENST00000679504.1:c.83-30_83-29insTA | ENSP00000505006.1:n.83-30_83-29insTA | |
| ENST00000680500.1:c.83-30_83-29insTA | ENSP00000506438.1:n.83-30_83-29insTA | |
| ENST00000680574.1:c.83-30_83-29insTA | ENSP00000505356.1:n.83-30_83-29insTA | |
| ENST00000303372.6:c.83-30_83-29insTA | ENSP00000304941.5:n.83-30_83-29insTA | |
| ENST00000426174.6:c.83-30_83-29insTA | ENSP00000395171.2:n.83-30_83-29insTA | |
| ENST00000541523.1:c.109-30_109-29insTA | ENSP00000437644.1:n.109-30_109-29insTA | |
| NM_001143850.2:c.83-30_83-29insTA | NP_001137322.1:n.83-30_83-29insTA | |
| NM_024809.4:c.83-30_83-29insTA | NP_079085.2:n.83-30_83-29insTA | |
| XM_005253623.2:c.83-30_83-29insTA | XP_005253680.1:n.83-30_83-29insTA | |
| XM_006719605.2:c.83-30_83-29insTA | XP_006719668.1:n.83-30_83-29insTA | |
| XM_006719605.3:c.83-30_83-29insTA | XP_006719668.1:n.83-30_83-29insTA | |
| XM_017019974.1:c.83-30_83-29insTA | XP_016875463.1:n.83-30_83-29insTA | |
| XM_017019975.1:c.-700-30_-700-29insTA | XP_016875464.1:n.-700-30_-700-29insTA | |
| NM_024809.5:c.83-30_83-29insTA MANE Select | NP_079085.2:n.83-30_83-29insTA | |
| NM_001143850.3:c.83-30_83-29insTA | NP_001137322.1:n.83-30_83-29insTA |