Linked Data
ClinVar Variation Id:
393462
ClinVar RCV Id:
RCV000454366
dbSNP Id:
rs1060499558
gnomAD v4:
7-41965437-GC-G
PubMed:
PMID:28315472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41965442del , CM000669.2:g.41965442del | GRCh38 |
| NC_000007.13:g.42005040del , CM000669.1:g.42005040del | GRCh37 |
| NC_000007.12:g.41971565del | NCBI36 |
| NG_008434.1:g.276583del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.3635del MANE Select | ENSP00000379258.3:p.Gly1212AlafsTer18 | |
| ENST00000677288.1:c.3461del | ENSP00000503986.1:p.Gly1154AlafsTer18 | |
| ENST00000677605.1:c.3635del | ENSP00000503743.1:p.Gly1212AlafsTer18 | |
| ENST00000678429.1:c.3635del | ENSP00000502957.1:p.Gly1212AlafsTer18 | |
| ENST00000395925.7:c.3635del | ENSP00000379258.3:p.Gly1212AlafsTer18 | |
| ENST00000479210.1:n.3612del | ||
| NM_000168.5:c.3635del | NP_000159.3:p.Gly1212AlafsTer18 | |
| XM_005249703.1:c.3635del | XP_005249760.1:p.Gly1212AlafsTer18 | |
| XM_005249704.2:c.3635del | XP_005249761.1:p.Gly1212AlafsTer18 | |
| XM_011515272.1:c.3635del | XP_011513574.1:p.Gly1212AlafsTer18 | |
| XM_011515273.1:c.3635del | XP_011513575.1:p.Gly1212AlafsTer18 | |
| XM_011515274.1:c.3458del | XP_011513576.1:p.Gly1153AlafsTer18 | |
| XM_011515274.2:c.3458del | XP_011513576.1:p.Gly1153AlafsTer18 | |
| XM_017011997.1:c.3632del | XP_016867486.1:p.Gly1211AlafsTer18 | |
| NM_000168.6:c.3635del MANE Select | NP_000159.3:p.Gly1212AlafsTer18 |