Canonical Allele Identifier: CA2809521822

Gene: CAVIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404760_42404761insT , CM000679.2:g.42404760_42404761insT	GRCh38
NC_000017.10:g.40556778_40556779insT , CM000679.1:g.40556778_40556779insT	GRCh37
NC_000017.9:g.37810304_37810305insT	NCBI36
NG_015845.1:g.23560_23561insA
NG_015845.2:g.23560_23561insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1099_1100insA MANE Select	ENSP00000349541.4:p.Pro367HisfsTer?
ENST00000357037.5:c.1099_1100insA	ENSP00000349541.4:p.Pro367HisfsTer?
NM_012232.5:c.1099_1100insA	NP_036364.2:p.Pro367HisfsTer?
NM_012232.6:c.1099_1100insA MANE Select	NP_036364.2:p.Pro367HisfsTer?