Canonical Allele Identifier: CA1969333460
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339732_47339733delinsTA , CM000673.2:g.47339732_47339733delinsTA GRCh38
NC_000011.9:g.47361283_47361284delinsTA , CM000673.1:g.47361283_47361284delinsTA GRCh37
NC_000011.8:g.47317859_47317860delinsTA NCBI36
NG_007667.1:g.17970_17971delinsTA , LRG_386:g.17970_17971delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1985_1986delinsTA MANE Select ENSP00000442795.1:p.Val662=
ENST00000256993.8:c.1985_1986delinsTA ENSP00000256993.5:p.Val662=
ENST00000399249.6:c.1985_1986delinsTA ENSP00000382193.2:p.Val662=
ENST00000544791.1:c.1985_1986delinsTA ENSP00000444259.1:p.Val662=
ENST00000545968.5:c.1985_1986delinsTA ENSP00000442795.1:p.Val662=
NM_000256.3:c.1985_1986delinsTA , LRG_386t1:c.1985_1986delinsTA MANE Select NP_000247.2:p.Val662=
XM_011520117.1:c.1967_1968delinsTA XP_011518419.1:p.Val656=
XM_011520118.1:c.1985_1986delinsTA XP_011518420.1:p.Val662=