Linked Data
dbSNP Id:
rs767832643
gnomAD v2:
17-40556828-C-CTCG
gnomAD v4:
17-42404810-C-CTCG
MyVariant Identifiers:
chr17:g.40556831_40556832insTCG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404820_42404822dup , CM000679.2:g.42404820_42404822dup | GRCh38 |
| NC_000017.10:g.40556838_40556840dup , CM000679.1:g.40556838_40556840dup | GRCh37 |
| NC_000017.9:g.37810364_37810366dup | NCBI36 |
| NG_015845.1:g.23508_23510dup | |
| NG_015845.2:g.23508_23510dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1047_1049dup MANE Select | ENSP00000349541.4:p.Asp349_Glu350insAsp | |
| ENST00000357037.5:c.1047_1049dup | ENSP00000349541.4:p.Asp349_Glu350insAsp | |
| NM_012232.5:c.1047_1049dup | NP_036364.2:p.Asp349_Glu350insAsp | |
| NM_012232.6:c.1047_1049dup MANE Select | NP_036364.2:p.Asp349_Glu350insAsp |