Linked Data
dbSNP Id:
rs1460619866
gnomAD v3:
17-72122476-A-AAGGGG
gnomAD v4:
17-72122476-A-AAGGGG
MyVariant Identifiers:
chr17:g.70118617_70118618insAGGGG (hg19)
chr17:g.72122476_72122477insAGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122486_72122490dup , CM000679.2:g.72122486_72122490dup | GRCh38 |
| NC_000017.10:g.70118627_70118631dup , CM000679.1:g.70118627_70118631dup | GRCh37 |
| NC_000017.9:g.67630222_67630226dup | NCBI36 |
| NG_012490.1:g.6467_6471dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.432-233_432-229dup MANE Select | ENSP00000245479.2:n.432-233_432-229dup | |
| ENST00000245479.2:c.432-233_432-229dup | ENSP00000245479.2:n.432-233_432-229dup | |
| NM_000346.3:c.432-233_432-229dup | NP_000337.1:n.432-233_432-229dup | |
| NM_000346.4:c.432-233_432-229dup MANE Select | NP_000337.1:n.432-233_432-229dup |