Linked Data
dbSNP Id:
rs1567585622
gnomAD v2:
17-13980124-C-CT
gnomAD v4:
17-14076807-C-CT
MyVariant Identifiers:
chr17:g.13980124_13980125insT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076809dup , CM000679.2:g.14076809dup | GRCh38 |
| NC_000017.10:g.13980126dup , CM000679.1:g.13980126dup | GRCh37 |
| NC_000017.9:g.13920851dup | NCBI36 |
| NG_008034.1:g.12408dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.252dup MANE Select | ENSP00000261643.3:p.Glu85Ter | |
| ENST00000664217.1:c.252dup | ENSP00000499396.1:p.Glu85Ter | |
| ENST00000670279.1:c.252dup | ENSP00000499450.1:p.Glu85Ter | |
| ENST00000261643.7:c.252dup | ENSP00000261643.3:p.Glu85Ter | |
| ENST00000429152.6:c.252dup | ENSP00000397750.2:p.Glu85Ter | |
| ENST00000580561.1:c.177+2353dup | ENSP00000462190.1:n.177+2353dup | |
| ENST00000581931.5:c.252dup | ENSP00000462512.1:p.Glu85Ter | |
| NM_001303.3:c.252dup | NP_001294.2:p.Glu85Ter | |
| XM_005256458.1:c.252dup | XP_005256515.1:p.Glu85Ter | |
| XM_011523657.1:c.252dup | XP_011521959.1:p.Glu85Ter | |
| XM_011523658.1:c.-200dup | XP_011521960.1:n.-200dup | |
| XR_933974.1:n.355dup | ||
| XR_933975.1:n.355dup | ||
| NM_001303.4:c.252dup MANE Select | NP_001294.2:p.Glu85Ter |