Canonical Allele Identifier: CA1969336653
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343061_47343062delinsCA , CM000673.2:g.47343061_47343062delinsCA GRCh38
NC_000011.9:g.47364612_47364613delinsCA , CM000673.1:g.47364612_47364613delinsCA GRCh37
NC_000011.8:g.47321188_47321189delinsCA NCBI36
NG_007667.1:g.14641_14642delinsTG , LRG_386:g.14641_14642delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1310_1311delinsTG MANE Select ENSP00000442795.1:p.Val437=
ENST00000256993.8:c.1310_1311delinsTG ENSP00000256993.5:p.Val437=
ENST00000399249.6:c.1310_1311delinsTG ENSP00000382193.2:p.Val437=
ENST00000544791.1:c.1310_1311delinsTG ENSP00000444259.1:p.Val437=
ENST00000545968.5:c.1310_1311delinsTG ENSP00000442795.1:p.Val437=
NM_000256.3:c.1310_1311delinsTG , LRG_386t1:c.1310_1311delinsTG MANE Select NP_000247.2:p.Val437=
XM_011520117.1:c.1292_1293delinsTG XP_011518419.1:p.Val431=
XM_011520118.1:c.1310_1311delinsTG XP_011518420.1:p.Val437=