Canonical Allele Identifier: CA2613405827

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47343326-A-ACAAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343326_47343327insCAAAAG , CM000673.2:g.47343326_47343327insCAAAAG	GRCh38
NC_000011.9:g.47364877_47364878insCAAAAG , CM000673.1:g.47364877_47364878insCAAAAG	GRCh37
NC_000011.8:g.47321453_47321454insCAAAAG	NCBI36
NG_007667.1:g.14376_14377insCTTTTG , LRG_386:g.14376_14377insCTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1224-65_1224-64insCTTTTG MANE Select	ENSP00000442795.1:n.1224-65_1224-64insCTTTTG
ENST00000256993.8:c.1223+165_1223+166insCTTTTG	ENSP00000256993.5:n.1223+165_1223+166insCTTTTG
ENST00000399249.6:c.1224-65_1224-64insCTTTTG	ENSP00000382193.2:n.1224-65_1224-64insCTTTTG
ENST00000544791.1:c.1224-65_1224-64insCTTTTG	ENSP00000444259.1:n.1224-65_1224-64insCTTTTG
ENST00000545968.5:c.1224-65_1224-64insCTTTTG	ENSP00000442795.1:n.1224-65_1224-64insCTTTTG
NM_000256.3:c.1224-65_1224-64insCTTTTG , LRG_386t1:c.1224-65_1224-64insCTTTTG MANE Select	NP_000247.2:n.1224-65_1224-64insCTTTTG
XM_011520117.1:c.1206-65_1206-64insCTTTTG	XP_011518419.1:n.1206-65_1206-64insCTTTTG
XM_011520118.1:c.1224-65_1224-64insCTTTTG	XP_011518420.1:n.1224-65_1224-64insCTTTTG