Canonical Allele Identifier: CA221695423

Gene: MYBPC3

Linked Data

• dbSNP Id: rs759099506
• gnomAD v2: 11-47364073-T-TG
• gnomAD v3: 11-47342522-T-TG
• gnomAD v4: 11-47342522-T-TG
• MyVariant Identifiers: chr11:g.47364073_47364074insG (hg19) ; chr11:g.47342522_47342523insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342527dup , CM000673.2:g.47342527dup	GRCh38
NC_000011.9:g.47364078dup , CM000673.1:g.47364078dup	GRCh37
NC_000011.8:g.47320654dup	NCBI36
NG_007667.1:g.15180dup , LRG_386:g.15180dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1624+55dup MANE Select	ENSP00000442795.1:n.1624+55dup
ENST00000256993.8:c.1624+55dup	ENSP00000256993.5:n.1624+55dup
ENST00000399249.6:c.1624+55dup	ENSP00000382193.2:n.1624+55dup
ENST00000544791.1:c.1624+55dup	ENSP00000444259.1:n.1624+55dup
ENST00000545968.5:c.1624+55dup	ENSP00000442795.1:n.1624+55dup
NM_000256.3:c.1624+55dup , LRG_386t1:c.1624+55dup MANE Select	NP_000247.2:n.1624+55dup
XM_011520117.1:c.1606+55dup	XP_011518419.1:n.1606+55dup
XM_011520118.1:c.1624+55dup	XP_011518420.1:n.1624+55dup