Canonical Allele Identifier: CA2613393055

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47337939-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337939_47337940insCTG , CM000673.2:g.47337939_47337940insCTG	GRCh38
NC_000011.9:g.47359490_47359491insCTG , CM000673.1:g.47359490_47359491insCTG	GRCh37
NC_000011.8:g.47316066_47316067insCTG	NCBI36
NG_007667.1:g.19763_19764insCAG , LRG_386:g.19763_19764insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2309-146_2309-145insCAG MANE Select	ENSP00000442795.1:n.2309-146_2309-145insCAG
ENST00000256993.8:c.2309-146_2309-145insCAG	ENSP00000256993.5:n.2309-146_2309-145insCAG
ENST00000399249.6:c.2309-146_2309-145insCAG	ENSP00000382193.2:n.2309-146_2309-145insCAG
ENST00000544791.1:c.2309-146_2309-145insCAG	ENSP00000444259.1:n.2309-146_2309-145insCAG
ENST00000545968.5:c.2309-146_2309-145insCAG	ENSP00000442795.1:n.2309-146_2309-145insCAG
NM_000256.3:c.2309-146_2309-145insCAG , LRG_386t1:c.2309-146_2309-145insCAG MANE Select	NP_000247.2:n.2309-146_2309-145insCAG
XM_011520117.1:c.2291-146_2291-145insCAG	XP_011518419.1:n.2291-146_2291-145insCAG
XM_011520118.1:c.2228-146_2228-145insCAG	XP_011518420.1:n.2228-146_2228-145insCAG