Canonical Allele Identifier: CA2613394862

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47339491-CCACACTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339493_47339499del , CM000673.2:g.47339493_47339499del	GRCh38
NC_000011.9:g.47361044_47361050del , CM000673.1:g.47361044_47361050del	GRCh37
NC_000011.8:g.47317620_47317626del	NCBI36
NG_007667.1:g.18205_18211del , LRG_386:g.18205_18211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2068-94_2068-88del MANE Select	ENSP00000442795.1:n.2068-94_2068-88del
ENST00000256993.8:c.2068-94_2068-88del	ENSP00000256993.5:n.2068-94_2068-88del
ENST00000399249.6:c.2068-94_2068-88del	ENSP00000382193.2:n.2068-94_2068-88del
ENST00000544791.1:c.2068-94_2068-88del	ENSP00000444259.1:n.2068-94_2068-88del
ENST00000545968.5:c.2068-94_2068-88del	ENSP00000442795.1:n.2068-94_2068-88del
NM_000256.3:c.2068-94_2068-88del , LRG_386t1:c.2068-94_2068-88del MANE Select	NP_000247.2:n.2068-94_2068-88del
XM_011520117.1:c.2050-94_2050-88del	XP_011518419.1:n.2050-94_2050-88del
XM_011520118.1:c.2067+153_2067+159del	XP_011518420.1:n.2067+153_2067+159del