Linked Data
ClinVar Variation Id:
2048132
ClinVar RCV Id:
RCV002918566
dbSNP Id:
rs1337417350
gnomAD v3:
19-17830591-ATGT-A
gnomAD v4:
19-17830591-ATGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830595_17830597del , CM000681.2:g.17830595_17830597del | GRCh38 |
| NC_000019.9:g.17941404_17941406del , CM000681.1:g.17941404_17941406del | GRCh37 |
| NC_000019.8:g.17802404_17802406del | NCBI36 |
| NG_007273.1:g.22398_22400del , LRG_77:g.22398_22400del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1562_*1564del | ENSP00000513006.1:n.*1562_*1564del | |
| ENST00000696967.1:n.2182_2184del | ||
| ENST00000696968.1:n.238_240del | ||
| ENST00000696969.1:n.1962_1964del | ||
| ENST00000458235.7:c.3005_3007del MANE Select | ENSP00000391676.1:p.Asn1002del | |
| ENST00000458235.5:c.3005_3007del | ENSP00000391676.1:p.Asn1002del | |
| ENST00000527031.5:n.2279-5284_2279-5282del | ||
| ENST00000527670.5:c.3005_3007del | ENSP00000432511.1:p.Asn1002del | |
| ENST00000534444.1:c.3005_3007del | ENSP00000436421.1:p.Asn1002del | |
| NM_000215.3:c.3005_3007del , LRG_77t1:c.3005_3007del | NP_000206.2:p.Asn1002del | |
| XM_005259896.2:c.3134_3136del | XP_005259953.1:p.Asn1045del | |
| XM_006722745.2:c.3005_3007del | XP_006722808.1:p.Asn1002del | |
| XM_005259896.3:c.3134_3136del | XP_005259953.1:p.Asn1045del | |
| NM_000215.4:c.3005_3007del MANE Select | NP_000206.2:p.Asn1002del |