Linked Data
ClinVar Variation Id:
4026
ClinVar RCV Id:
RCV000004241
dbSNP Id:
rs121907941
MyVariant Identifiers:
chr17:g.78084773_78084774delinsGT (hg19)
chr17:g.80110974_80110975delinsGT (hg38)
PubMed:
PMID:8834250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80110974_80110975delinsGT , CM000679.2:g.80110974_80110975delinsGT | GRCh38 |
| NC_000017.10:g.78084773_78084774delinsGT , CM000679.1:g.78084773_78084774delinsGT | GRCh37 |
| NC_000017.9:g.75699368_75699369delinsGT | NCBI36 |
| NG_009822.1:g.14419_14420delinsGT , LRG_673:g.14419_14420delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570803.6:c.1585_1586delinsGT | ENSP00000460543.2:p.Ser529Val | |
| ENST00000572080.2:c.1585_1586delinsGT | ENSP00000459972.2:p.Ser529Val | |
| ENST00000577106.6:c.1585_1586delinsGT | ENSP00000458306.2:p.Ser529Val | |
| ENST00000302262.8:c.1585_1586delinsGT MANE Select | ENSP00000305692.3:p.Ser529Val | |
| ENST00000302262.7:c.1585_1586delinsGT | ENSP00000305692.3:p.Ser529Val | |
| ENST00000390015.7:c.1585_1586delinsGT | ENSP00000374665.3:p.Ser529Val | |
| NM_000152.3:c.1585_1586delinsGT , LRG_673t1:c.1585_1586delinsGT | NP_000143.2:p.Ser529Val | |
| NM_001079803.1:c.1585_1586delinsGT | NP_001073271.1:p.Ser529Val | |
| NM_001079804.1:c.1585_1586delinsGT | NP_001073272.1:p.Ser529Val | |
| XM_005257193.1:c.1585_1586delinsGT | XP_005257250.1:p.Ser529Val | |
| XM_005257194.3:c.1585_1586delinsGT | XP_005257251.1:p.Ser529Val | |
| NM_000152.4:c.1585_1586delinsGT | NP_000143.2:p.Ser529Val | |
| NM_001079803.2:c.1585_1586delinsGT | NP_001073271.1:p.Ser529Val | |
| NM_001079804.2:c.1585_1586delinsGT | NP_001073272.1:p.Ser529Val | |
| XM_005257193.2:c.1585_1586delinsGT | XP_005257250.1:p.Ser529Val | |
| XM_005257194.4:c.1585_1586delinsGT | XP_005257251.1:p.Ser529Val | |
| NM_000152.5:c.1585_1586delinsGT MANE Select | NP_000143.2:p.Ser529Val | |
| NM_001079803.3:c.1585_1586delinsGT | NP_001073271.1:p.Ser529Val | |
| NM_001079804.3:c.1585_1586delinsGT | NP_001073272.1:p.Ser529Val |