Canonical Allele Identifier: CA2580084219

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332934_47332935insT , CM000673.2:g.47332934_47332935insT	GRCh38
NC_000011.9:g.47354485_47354486insT , CM000673.1:g.47354485_47354486insT	GRCh37
NC_000011.8:g.47311061_47311062insT	NCBI36
NG_007667.1:g.24768_24769insA , LRG_386:g.24768_24769insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3369_3370insA MANE Select	ENSP00000442795.1:p.Cys1124MetfsTer25
ENST00000256993.8:c.3369_3370insA	ENSP00000256993.5:p.Cys1124MetfsTer25
ENST00000399249.6:c.3369_3370insA	ENSP00000382193.2:p.Cys1124MetfsTer25
ENST00000545968.5:c.3369_3370insA	ENSP00000442795.1:p.Cys1124MetfsTer25
NM_000256.3:c.3369_3370insA , LRG_386t1:c.3369_3370insA MANE Select	NP_000247.2:p.Cys1124MetfsTer25
XM_011520117.1:c.3351_3352insA	XP_011518419.1:p.Cys1118MetfsTer25
XM_011520118.1:c.3288_3289insA	XP_011518420.1:p.Cys1097MetfsTer25