Canonical Allele Identifier: CA1969331848
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095884587

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338194_47338200del , CM000673.2:g.47338194_47338200del GRCh38
NC_000011.9:g.47359745_47359751del , CM000673.1:g.47359745_47359751del GRCh37
NC_000011.8:g.47316321_47316327del NCBI36
NG_007667.1:g.19504_19510del , LRG_386:g.19504_19510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2308+321_2308+327del MANE Select ENSP00000442795.1:n.2308+321_2308+327del
ENST00000256993.8:c.2308+321_2308+327del ENSP00000256993.5:n.2308+321_2308+327del
ENST00000399249.6:c.2308+321_2308+327del ENSP00000382193.2:n.2308+321_2308+327del
ENST00000544791.1:c.2308+321_2308+327del ENSP00000444259.1:n.2308+321_2308+327del
ENST00000545968.5:c.2308+321_2308+327del ENSP00000442795.1:n.2308+321_2308+327del
NM_000256.3:c.2308+321_2308+327del , LRG_386t1:c.2308+321_2308+327del MANE Select NP_000247.2:n.2308+321_2308+327del
XM_011520117.1:c.2290+321_2290+327del XP_011518419.1:n.2290+321_2290+327del
XM_011520118.1:c.2227+321_2227+327del XP_011518420.1:n.2227+321_2227+327del