Canonical Allele Identifier: CA16042751
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372417
ClinVar RCV Id: RCV000413465
dbSNP Id: rs1057517766

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351256_47351257del , CM000673.2:g.47351256_47351257del GRCh38
NC_000011.9:g.47372807_47372808del , CM000673.1:g.47372807_47372808del GRCh37
NC_000011.8:g.47329383_47329384del NCBI36
NG_007667.1:g.6447_6448del , LRG_386:g.6447_6448del

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.275_276del , LRG_386t1:c.275_276del NP_000247.2:p.Leu92GlnfsTer20
XM_011520117.1:c.275_276del XP_011518419.1:p.Leu92GlnfsTer20
XM_011520118.1:c.275_276del XP_011518420.1:p.Leu92GlnfsTer20
ENST00000256993.8:c.275_276del ENSP00000256993.5:p.Leu92GlnfsTer20
ENST00000399249.6:c.275_276del ENSP00000382193.2:p.Leu92GlnfsTer20
ENST00000544791.1:c.275_276del ENSP00000444259.1:p.Leu92GlnfsTer20
ENST00000545968.5:c.275_276del ENSP00000442795.1:p.Leu92GlnfsTer20