Canonical Allele Identifier: CA2613406000

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47343388-GAGAGCCACACCGAGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343393_47343408del , CM000673.2:g.47343393_47343408del	GRCh38
NC_000011.9:g.47364944_47364959del , CM000673.1:g.47364944_47364959del	GRCh37
NC_000011.8:g.47321520_47321535del	NCBI36
NG_007667.1:g.14299_14314del , LRG_386:g.14299_14314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1223+88_1223+103del MANE Select	ENSP00000442795.1:n.1223+88_1223+103del
ENST00000256993.8:c.1223+88_1223+103del	ENSP00000256993.5:n.1223+88_1223+103del
ENST00000399249.6:c.1223+88_1223+103del	ENSP00000382193.2:n.1223+88_1223+103del
ENST00000544791.1:c.1223+88_1223+103del	ENSP00000444259.1:n.1223+88_1223+103del
ENST00000545968.5:c.1223+88_1223+103del	ENSP00000442795.1:n.1223+88_1223+103del
NM_000256.3:c.1223+88_1223+103del , LRG_386t1:c.1223+88_1223+103del MANE Select	NP_000247.2:n.1223+88_1223+103del
XM_011520117.1:c.1205+88_1205+103del	XP_011518419.1:n.1205+88_1205+103del
XM_011520118.1:c.1223+88_1223+103del	XP_011518420.1:n.1223+88_1223+103del