Linked Data
dbSNP Id:
rs1294786546
MyVariant Identifiers:
chr3:g.135980660_135980661insAAAC (hg19)
chr3:g.136261818_136261819insAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136261819_136261822dup , CM000665.2:g.136261819_136261822dup | GRCh38 |
| NC_000003.11:g.135980661_135980664dup , CM000665.1:g.135980661_135980664dup | GRCh37 |
| NC_000003.10:g.137463351_137463354dup | NCBI36 |
| NG_008939.1:g.16495_16498dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.430-133_430-130dup MANE Select | ENSP00000251654.4:n.430-133_430-130dup | |
| ENST00000251654.8:c.430-133_430-130dup | ENSP00000251654.4:n.430-133_430-130dup | |
| ENST00000459873.1:c.181-133_181-130dup | ENSP00000419293.1:n.181-133_181-130dup | |
| ENST00000462542.5:c.297-133_297-130dup | ||
| ENST00000462637.5:c.361-133_361-130dup | ENSP00000420391.1:n.361-133_361-130dup | |
| ENST00000465176.5:n.392-133_392-130dup | ||
| ENST00000465423.5:c.517-133_517-130dup | ENSP00000419263.1:n.517-133_517-130dup | |
| ENST00000466072.5:c.430-133_430-130dup | ENSP00000420158.1:n.430-133_430-130dup | |
| ENST00000468777.5:c.523-133_523-130dup | ENSP00000419129.1:n.523-133_523-130dup | |
| ENST00000469217.5:c.490-133_490-130dup | ENSP00000419027.1:n.490-133_490-130dup | |
| ENST00000471595.5:c.430-133_430-130dup | ENSP00000417549.1:n.430-133_430-130dup | |
| ENST00000473073.1:n.387-133_387-130dup | ||
| ENST00000474833.5:n.168+11261_168+11264dup | ||
| ENST00000475214.5:n.344-133_344-130dup | ||
| ENST00000478469.5:c.430-133_430-130dup | ENSP00000420759.1:n.430-133_430-130dup | |
| ENST00000482086.5:c.94-145_94-142dup | ENSP00000417253.1:n.94-145_94-142dup | |
| ENST00000483687.5:c.373-133_373-130dup | ENSP00000420639.1:n.373-133_373-130dup | |
| ENST00000484181.5:c.430-133_430-130dup | ENSP00000417937.1:n.430-133_430-130dup | |
| ENST00000490504.5:c.372+5196_372+5199dup | ENSP00000418307.1:n.372+5196_372+5199dup | |
| ENST00000494742.5:c.181-133_181-130dup | ENSP00000418020.1:n.181-133_181-130dup | |
| NM_000532.4:c.430-133_430-130dup | NP_000523.2:n.430-133_430-130dup | |
| NM_001178014.1:c.490-133_490-130dup | NP_001171485.1:n.490-133_490-130dup | |
| XM_011512873.1:c.430-133_430-130dup | XP_011511175.1:n.430-133_430-130dup | |
| XM_011512873.2:c.430-133_430-130dup | XP_011511175.1:n.430-133_430-130dup | |
| NM_000532.5:c.430-133_430-130dup MANE Select | NP_000523.2:n.430-133_430-130dup | |
| NM_001178014.2:c.490-133_490-130dup | NP_001171485.1:n.490-133_490-130dup |