Canonical Allele Identifier: CA2613392529

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47332750-C-CACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332750_47332751insACAG , CM000673.2:g.47332750_47332751insACAG	GRCh38
NC_000011.9:g.47354301_47354302insACAG , CM000673.1:g.47354301_47354302insACAG	GRCh37
NC_000011.8:g.47310877_47310878insACAG	NCBI36
NG_007667.1:g.24952_24953insCTGT , LRG_386:g.24952_24953insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3491-49_3491-48insCTGT MANE Select	ENSP00000442795.1:n.3491-49_3491-48insCTGT
ENST00000256993.8:c.3491-49_3491-48insCTGT	ENSP00000256993.5:n.3491-49_3491-48insCTGT
ENST00000399249.6:c.3491-49_3491-48insCTGT	ENSP00000382193.2:n.3491-49_3491-48insCTGT
ENST00000545968.5:c.3491-49_3491-48insCTGT	ENSP00000442795.1:n.3491-49_3491-48insCTGT
NM_000256.3:c.3491-49_3491-48insCTGT , LRG_386t1:c.3491-49_3491-48insCTGT MANE Select	NP_000247.2:n.3491-49_3491-48insCTGT
XM_011520117.1:c.3473-49_3473-48insCTGT	XP_011518419.1:n.3473-49_3473-48insCTGT
XM_011520118.1:c.3410-49_3410-48insCTGT	XP_011518420.1:n.3410-49_3410-48insCTGT