Canonical Allele Identifier: CA2572730115

Gene: CAVIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404783_42404784insGC , CM000679.2:g.42404783_42404784insGC	GRCh38
NC_000017.10:g.40556801_40556802insGC , CM000679.1:g.40556801_40556802insGC	GRCh37
NC_000017.9:g.37810327_37810328insGC	NCBI36
NG_015845.1:g.23537_23538insGC
NG_015845.2:g.23537_23538insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1076_1077insGC MANE Select	ENSP00000349541.4:p.Asp360ProfsTer?
ENST00000357037.5:c.1076_1077insGC	ENSP00000349541.4:p.Asp360ProfsTer?
NM_012232.5:c.1076_1077insGC	NP_036364.2:p.Asp360ProfsTer?
NM_012232.6:c.1076_1077insGC MANE Select	NP_036364.2:p.Asp360ProfsTer?