Canonical Allele Identifier: CA2809521821
Gene: CAVIN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404757_42404758insTGGCTT , CM000679.2:g.42404757_42404758insTGGCTT GRCh38
NC_000017.10:g.40556775_40556776insTGGCTT , CM000679.1:g.40556775_40556776insTGGCTT GRCh37
NC_000017.9:g.37810301_37810302insTGGCTT NCBI36
NG_015845.1:g.23564_23565insAGCCAA
NG_015845.2:g.23564_23565insAGCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1103_1104insAGCCAA MANE Select ENSP00000349541.4:p.Asp368delinsGluAlaAsn
ENST00000357037.5:c.1103_1104insAGCCAA ENSP00000349541.4:p.Asp368delinsGluAlaAsn
NM_012232.5:c.1103_1104insAGCCAA NP_036364.2:p.Asp368delinsGluAlaAsn
NM_012232.6:c.1103_1104insAGCCAA MANE Select NP_036364.2:p.Asp368delinsGluAlaAsn
Search 100 bp 5'
Search 100 bp 3'