Linked Data
ClinVar Variation Id:
631537
ClinVar RCV Id:
RCV000778141
dbSNP Id:
rs775724610
ExAC:
19:7184371 CTTG / C
gnomAD v4:
19-7184360-CTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7184368_7184370del , CM000681.2:g.7184368_7184370del | GRCh38 |
| NC_000019.9:g.7184379_7184381del , CM000681.1:g.7184379_7184381del | GRCh37 |
| NC_000019.8:g.7135379_7135381del | NCBI36 |
| NG_008852.2:g.114638_114640del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.927_929del MANE Select | ENSP00000303830.4:p.Asn309del | |
| ENST00000302850.9:c.927_929del | ENSP00000303830.4:p.Asn309del | |
| ENST00000341500.9:c.927_929del | ENSP00000342838.4:p.Asn309del | |
| ENST00000598216.1:n.902_904del | ||
| NM_000208.2:c.927_929del | NP_000199.2:p.Asn309del | |
| NM_000208.3:c.927_929del | NP_000199.2:p.Asn309del | |
| NM_001079817.1:c.927_929del | NP_001073285.1:p.Asn309del | |
| NM_001079817.2:c.927_929del | NP_001073285.1:p.Asn309del | |
| XM_011527988.1:c.1005_1007del | XP_011526290.1:p.Asn335del | |
| XM_011527989.1:c.1005_1007del | XP_011526291.1:p.Asn335del | |
| XM_011527988.2:c.927_929del | XP_011526290.2:p.Asn309del | |
| XM_011527989.3:c.927_929del | XP_011526291.2:p.Asn309del | |
| NM_000208.4:c.927_929del MANE Select | NP_000199.2:p.Asn309del | |
| NM_001079817.3:c.927_929del | NP_001073285.1:p.Asn309del |