Linked Data
dbSNP Id:
rs1224598756
gnomAD v2:
17-70118605-A-AAAT
gnomAD v3:
17-72122464-A-AAAT
gnomAD v4:
17-72122464-A-AAAT
MyVariant Identifiers:
chr17:g.70118605_70118606insAAT (hg19)
chr17:g.72122464_72122465insAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122466_72122468dup , CM000679.2:g.72122466_72122468dup | GRCh38 |
| NC_000017.10:g.70118607_70118609dup , CM000679.1:g.70118607_70118609dup | GRCh37 |
| NC_000017.9:g.67630202_67630204dup | NCBI36 |
| NG_012490.1:g.6447_6449dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.432-253_432-251dup MANE Select | ENSP00000245479.2:n.432-253_432-251dup | |
| ENST00000245479.2:c.432-253_432-251dup | ENSP00000245479.2:n.432-253_432-251dup | |
| NM_000346.3:c.432-253_432-251dup | NP_000337.1:n.432-253_432-251dup | |
| NM_000346.4:c.432-253_432-251dup MANE Select | NP_000337.1:n.432-253_432-251dup |