Canonical Allele Identifier: CA2613399972

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47341273-C-CAATGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341273_47341274insAATGGT , CM000673.2:g.47341273_47341274insAATGGT	GRCh38
NC_000011.9:g.47362824_47362825insAATGGT , CM000673.1:g.47362824_47362825insAATGGT	GRCh37
NC_000011.8:g.47319400_47319401insAATGGT	NCBI36
NG_007667.1:g.16429_16430insACCATT , LRG_386:g.16429_16430insACCATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1791-30_1791-29insACCATT MANE Select	ENSP00000442795.1:n.1791-30_1791-29insACCATT
ENST00000256993.8:c.1791-30_1791-29insACCATT	ENSP00000256993.5:n.1791-30_1791-29insACCATT
ENST00000399249.6:c.1791-30_1791-29insACCATT	ENSP00000382193.2:n.1791-30_1791-29insACCATT
ENST00000544791.1:c.1791-30_1791-29insACCATT	ENSP00000444259.1:n.1791-30_1791-29insACCATT
ENST00000545968.5:c.1791-30_1791-29insACCATT	ENSP00000442795.1:n.1791-30_1791-29insACCATT
NM_000256.3:c.1791-30_1791-29insACCATT , LRG_386t1:c.1791-30_1791-29insACCATT MANE Select	NP_000247.2:n.1791-30_1791-29insACCATT
XM_011520117.1:c.1773-30_1773-29insACCATT	XP_011518419.1:n.1773-30_1773-29insACCATT
XM_011520118.1:c.1791-30_1791-29insACCATT	XP_011518420.1:n.1791-30_1791-29insACCATT