Linked Data
dbSNP Id:
rs1376715476
gnomAD v2:
6-31238039-G-GTATC
MyVariant Identifiers:
chr6:g.31238039_31238040insTATC (hg19)
chr6:g.31270262_31270263insTATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270264_31270267dup , CM000668.2:g.31270264_31270267dup | GRCh38 |
| NC_000006.11:g.31238041_31238044dup , CM000668.1:g.31238041_31238044dup | GRCh37 |
| NC_000006.10:g.31346020_31346023dup | NCBI36 |
| NG_029422.2:g.6866_6869dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.839_842dup MANE Select | ENSP00000365402.5:p.Tyr281Ter | |
| ENST00000376228.9:c.839_842dup | ENSP00000365402.5:p.Tyr281Ter | |
| ENST00000376237.8:c.*426_*429dup | ENSP00000365412.4:n.*426_*429dup | |
| ENST00000383329.7:c.839_842dup | ENSP00000372819.3:p.Tyr281Ter | |
| ENST00000415537.1:c.730_733dup | ||
| ENST00000470363.5:n.157_160dup | ||
| ENST00000487245.5:n.1198_1201dup | ||
| ENST00000495835.1:n.1028_1031dup | ||
| NM_002117.5:c.839_842dup | NP_002108.4:p.Tyr281Ter | |
| NM_002117.6:c.839_842dup MANE Select | NP_002108.4:p.Tyr281Ter |