Linked Data
dbSNP Id:
rs761764499
gnomAD v2:
9-132576301-T-TATCTGAGAAA
gnomAD v3:
9-129814022-T-TATCTGAGAAA
gnomAD v4:
9-129814022-T-TATCTGAGAAA
MyVariant Identifiers:
chr9:g.132576301_132576302insATCTGAGAAA (hg19)
chr9:g.129814022_129814023insATCTGAGAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814024_129814033dup , CM000671.2:g.129814024_129814033dup | GRCh38 |
| NC_000009.11:g.132576303_132576312dup , CM000671.1:g.132576303_132576312dup | GRCh37 |
| NC_000009.10:g.131616124_131616133dup | NCBI36 |
| NG_008049.1:g.15131_15140dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.939_948dup MANE Select | ENSP00000345719.4:p.Lys317PhefsTer4 | |
| ENST00000651202.1:c.*207_*216dup | ENSP00000498222.1:n.*207_*216dup | |
| ENST00000351698.4:c.939_948dup | ENSP00000345719.4:p.Lys317PhefsTer4 | |
| ENST00000474192.1:n.523_532dup | ||
| NM_000113.2:c.939_948dup | NP_000104.1:p.Lys317PhefsTer4 | |
| XR_929731.3:n.1134_1143dup | ||
| NM_000113.3:c.939_948dup MANE Select | NP_000104.1:p.Lys317PhefsTer4 |