Canonical Allele Identifier: CA2613402495

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47342490-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342493del , CM000673.2:g.47342493del	GRCh38
NC_000011.9:g.47364044del , CM000673.1:g.47364044del	GRCh37
NC_000011.8:g.47320620del	NCBI36
NG_007667.1:g.15212del , LRG_386:g.15212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1624+87del MANE Select	ENSP00000442795.1:n.1624+87del
ENST00000256993.8:c.1624+87del	ENSP00000256993.5:n.1624+87del
ENST00000399249.6:c.1624+87del	ENSP00000382193.2:n.1624+87del
ENST00000544791.1:c.1624+87del	ENSP00000444259.1:n.1624+87del
ENST00000545968.5:c.1624+87del	ENSP00000442795.1:n.1624+87del
NM_000256.3:c.1624+87del , LRG_386t1:c.1624+87del MANE Select	NP_000247.2:n.1624+87del
XM_011520117.1:c.1606+87del	XP_011518419.1:n.1606+87del
XM_011520118.1:c.1624+87del	XP_011518420.1:n.1624+87del