Canonical Allele Identifier: CA2613356026

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47332426-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332428_47332429del , CM000673.2:g.47332428_47332429del	GRCh38
NC_000011.9:g.47353979_47353980del , CM000673.1:g.47353979_47353980del	GRCh37
NC_000011.8:g.47310555_47310556del	NCBI36
NG_007667.1:g.25275_25276del , LRG_386:g.25275_25276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3627+138_3627+139del MANE Select	ENSP00000442795.1:n.3627+138_3627+139del
ENST00000256993.8:c.3627+138_3627+139del	ENSP00000256993.5:n.3627+138_3627+139del
ENST00000399249.6:c.3627+138_3627+139del	ENSP00000382193.2:n.3627+138_3627+139del
ENST00000545968.5:c.3627+138_3627+139del	ENSP00000442795.1:n.3627+138_3627+139del
NM_000256.3:c.3627+138_3627+139del , LRG_386t1:c.3627+138_3627+139del MANE Select	NP_000247.2:n.3627+138_3627+139del
XM_011520117.1:c.3609+138_3609+139del	XP_011518419.1:n.3609+138_3609+139del
XM_011520118.1:c.3546+138_3546+139del	XP_011518420.1:n.3546+138_3546+139del