Linked Data
dbSNP Id:
rs1567585695
gnomAD v2:
17-13980270-T-TG
gnomAD v4:
17-14076953-T-TG
MyVariant Identifiers:
chr17:g.13980270_13980271insG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076954dup , CM000679.2:g.14076954dup | GRCh38 |
| NC_000017.10:g.13980271dup , CM000679.1:g.13980271dup | GRCh37 |
| NC_000017.9:g.13920996dup | NCBI36 |
| NG_008034.1:g.12553dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.397dup MANE Select | ENSP00000261643.3:p.Val133GlyfsTer20 | |
| ENST00000664217.1:c.397dup | ENSP00000499396.1:p.Val133GlyfsTer20 | |
| ENST00000670279.1:c.397dup | ENSP00000499450.1:p.Val133GlyfsTer20 | |
| ENST00000261643.7:c.397dup | ENSP00000261643.3:p.Val133GlyfsTer20 | |
| ENST00000429152.6:c.397dup | ENSP00000397750.2:p.Val133GlyfsTer20 | |
| ENST00000580561.1:c.177+2498dup | ENSP00000462190.1:n.177+2498dup | |
| ENST00000581931.5:c.397dup | ENSP00000462512.1:p.Val133GlyfsTer20 | |
| NM_001303.3:c.397dup | NP_001294.2:p.Val133GlyfsTer20 | |
| XM_005256458.1:c.397dup | XP_005256515.1:p.Val133GlyfsTer20 | |
| XM_011523657.1:c.397dup | XP_011521959.1:p.Val133GlyfsTer20 | |
| XM_011523658.1:c.-55dup | XP_011521960.1:n.-55dup | |
| XR_933974.1:n.500dup | ||
| XR_933975.1:n.500dup | ||
| NM_001303.4:c.397dup MANE Select | NP_001294.2:p.Val133GlyfsTer20 |