Canonical Allele Identifier: CA2695201132

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47335168_47335171dup , CM000673.2:g.47335168_47335171dup	GRCh38
NC_000011.9:g.47356719_47356722dup , CM000673.1:g.47356719_47356722dup	GRCh37
NC_000011.8:g.47313295_47313298dup	NCBI36
NG_007667.1:g.22534_22537dup , LRG_386:g.22534_22537dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000256.3:c.2778_2781dup , LRG_386t1:c.2778_2781dup MANE Select	NP_000247.2:p.Ser928HisfsTer?
ENST00000545968.6:c.2778_2781dup MANE Select	ENSP00000442795.1:p.Ser928HisfsTer?
ENST00000256993.8:c.2778_2781dup	ENSP00000256993.5:p.Ser928HisfsTer?
ENST00000399249.6:c.2778_2781dup	ENSP00000382193.2:p.Ser928HisfsTer?
ENST00000545968.5:c.2778_2781dup	ENSP00000442795.1:p.Ser928HisfsTer?
XM_011520117.1:c.2760_2763dup	XP_011518419.1:p.Ser922HisfsTer?
XM_011520118.1:c.2697_2700dup	XP_011518420.1:p.Ser901HisfsTer?