Canonical Allele Identifier: CA474221127

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1442289339
• gnomAD v2: 11-47368626-GGA-G
• gnomAD v4: 11-47347075-GGA-G
• MyVariant Identifiers: chr11:g.47368627_47368628del (hg19) ; chr11:g.47347076_47347077del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47347083_47347084del , CM000673.2:g.47347083_47347084del	GRCh38
NC_000011.9:g.47368634_47368635del , CM000673.1:g.47368634_47368635del	GRCh37
NC_000011.8:g.47325210_47325211del	NCBI36
NG_007667.1:g.10626_10627del , LRG_386:g.10626_10627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.906-48_906-47del MANE Select	ENSP00000442795.1:n.906-48_906-47del
ENST00000256993.8:c.905+349_905+350del	ENSP00000256993.5:n.905+349_905+350del
ENST00000399249.6:c.905+349_905+350del	ENSP00000382193.2:n.905+349_905+350del
ENST00000544791.1:c.906-48_906-47del	ENSP00000444259.1:n.906-48_906-47del
ENST00000545968.5:c.906-48_906-47del	ENSP00000442795.1:n.906-48_906-47del
NM_000256.3:c.906-48_906-47del , LRG_386t1:c.906-48_906-47del MANE Select	NP_000247.2:n.906-48_906-47del
XM_011520117.1:c.906-48_906-47del	XP_011518419.1:n.906-48_906-47del
XM_011520118.1:c.906-48_906-47del	XP_011518420.1:n.906-48_906-47del