Linked Data
ClinVar Variation Id:
500119
ClinVar RCV Id:
RCV000595164
dbSNP Id:
rs1347163319
gnomAD v2:
19-7267654-GTAGT-G
gnomAD v4:
19-7267643-GTAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7267646_7267649del , CM000681.2:g.7267646_7267649del | GRCh38 |
| NC_000019.9:g.7267657_7267660del , CM000681.1:g.7267657_7267660del | GRCh37 |
| NC_000019.8:g.7218657_7218660del | NCBI36 |
| NG_008852.2:g.31354_31357del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.350_353del MANE Select | ENSP00000303830.4:p.Asn117ThrfsTer19 | |
| ENST00000302850.9:c.350_353del | ENSP00000303830.4:p.Asn117ThrfsTer19 | |
| ENST00000341500.9:c.350_353del | ENSP00000342838.4:p.Asn117ThrfsTer19 | |
| ENST00000598216.1:n.325_328del | ||
| NM_000208.2:c.350_353del | NP_000199.2:p.Asn117ThrfsTer19 | |
| NM_000208.3:c.350_353del | NP_000199.2:p.Asn117ThrfsTer19 | |
| NM_001079817.1:c.350_353del | NP_001073285.1:p.Asn117ThrfsTer19 | |
| NM_001079817.2:c.350_353del | NP_001073285.1:p.Asn117ThrfsTer19 | |
| XM_011527988.1:c.428_431del | XP_011526290.1:p.Asn143ThrfsTer19 | |
| XM_011527989.1:c.428_431del | XP_011526291.1:p.Asn143ThrfsTer19 | |
| XM_011527988.2:c.350_353del | XP_011526290.2:p.Asn117ThrfsTer19 | |
| XM_011527989.3:c.350_353del | XP_011526291.2:p.Asn117ThrfsTer19 | |
| NM_000208.4:c.350_353del MANE Select | NP_000199.2:p.Asn117ThrfsTer19 | |
| NM_001079817.3:c.350_353del | NP_001073285.1:p.Asn117ThrfsTer19 |