Canonical Allele Identifier: CA2613392572

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47337768-TGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337771_47337773del , CM000673.2:g.47337771_47337773del	GRCh38
NC_000011.9:g.47359322_47359324del , CM000673.1:g.47359322_47359324del	GRCh37
NC_000011.8:g.47315898_47315900del	NCBI36
NG_007667.1:g.19932_19934del , LRG_386:g.19932_19934del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2332_2334del MANE Select	ENSP00000442795.1:p.Pro778del
ENST00000256993.8:c.2332_2334del	ENSP00000256993.5:p.Pro778del
ENST00000399249.6:c.2332_2334del	ENSP00000382193.2:p.Pro778del
ENST00000544791.1:c.2332_2334del	ENSP00000444259.1:p.Pro778del
ENST00000545968.5:c.2332_2334del	ENSP00000442795.1:p.Pro778del
NM_000256.3:c.2332_2334del , LRG_386t1:c.2332_2334del MANE Select	NP_000247.2:p.Pro778del
XM_011520117.1:c.2314_2316del	XP_011518419.1:p.Pro772del
XM_011520118.1:c.2251_2253del	XP_011518420.1:p.Pro751del