Linked Data
ClinVar Variation Id:
17896
dbSNP Id:
rs587776852
gnomAD v2:
2-21228027-TG-T
gnomAD v3:
2-21005155-TG-T
gnomAD v4:
2-21005155-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21005156del , CM000664.2:g.21005156del | GRCh38 |
| NC_000002.11:g.21228028del , CM000664.1:g.21228028del | GRCh37 |
| NC_000002.10:g.21081533del | NCBI36 |
| NG_011793.1:g.43918del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.11712del MANE Select | ENSP00000233242.1:p.Asn3904LysfsTer21 | |
| ENST00000616098.4:c.11712del | ENSP00000477990.1:p.Asn3904LysfsTer21 | |
| NM_000384.2:c.11712del | NP_000375.2:p.Asn3904LysfsTer21 | |
| XM_011532809.1:c.5869+5577del | XP_011531111.1:n.5869+5577del | |
| NM_000384.3:c.11712del MANE Select | NP_000375.3:p.Asn3904LysfsTer21 |