Canonical Allele Identifier: CA599374142

Gene: MYBPC3

Linked Data

• gnomAD v2: 11-47358900-T-TG
• gnomAD v3: 11-47337349-T-TG
• gnomAD v4: 11-47337349-T-TG
• MyVariant Identifiers: chr11:g.47358900_47358901insG (hg19) ; chr11:g.47337349_47337350insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337353dup , CM000673.2:g.47337353dup	GRCh38
NC_000011.9:g.47358904dup , CM000673.1:g.47358904dup	GRCh37
NC_000011.8:g.47315480dup	NCBI36
NG_007667.1:g.20353dup , LRG_386:g.20353dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2602+41dup MANE Select	ENSP00000442795.1:n.2602+41dup
ENST00000256993.8:c.2602+41dup	ENSP00000256993.5:n.2602+41dup
ENST00000399249.6:c.2602+41dup	ENSP00000382193.2:n.2602+41dup
ENST00000544791.1:c.*107+41dup	ENSP00000444259.1:n.*107+41dup
ENST00000545968.5:c.2602+41dup	ENSP00000442795.1:n.2602+41dup
NM_000256.3:c.2602+41dup , LRG_386t1:c.2602+41dup MANE Select	NP_000247.2:n.2602+41dup
XM_011520117.1:c.2584+41dup	XP_011518419.1:n.2584+41dup
XM_011520118.1:c.2521+41dup	XP_011518420.1:n.2521+41dup