Canonical Allele Identifier: CA2576275144
Gene: CAVIN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404757_42404759dup , CM000679.2:g.42404757_42404759dup GRCh38
NC_000017.10:g.40556775_40556777dup , CM000679.1:g.40556775_40556777dup GRCh37
NC_000017.9:g.37810301_37810303dup NCBI36
NG_015845.1:g.23564_23566dup
NG_015845.2:g.23564_23566dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1103_1105dup MANE Select ENSP00000349541.4:p.Asp368_Val369insAsp
ENST00000357037.5:c.1103_1105dup ENSP00000349541.4:p.Asp368_Val369insAsp
NM_012232.5:c.1103_1105dup NP_036364.2:p.Asp368_Val369insAsp
NM_012232.6:c.1103_1105dup MANE Select NP_036364.2:p.Asp368_Val369insAsp
Search 100 bp 5'
Search 100 bp 3'