Canonical Allele Identifier: CA1969335029
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333169_47333170delinsTG , CM000673.2:g.47333169_47333170delinsTG GRCh38
NC_000011.9:g.47354720_47354721delinsTG , CM000673.1:g.47354720_47354721delinsTG GRCh37
NC_000011.8:g.47311296_47311297delinsTG NCBI36
NG_007667.1:g.24533_24534delinsCA , LRG_386:g.24533_24534delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3330+24_3330+25delinsCA MANE Select ENSP00000442795.1:n.3330+24_3330+25delinsCA
ENST00000256993.8:c.3330+24_3330+25delinsCA ENSP00000256993.5:n.3330+24_3330+25delinsCA
ENST00000399249.6:c.3330+24_3330+25delinsCA ENSP00000382193.2:n.3330+24_3330+25delinsCA
ENST00000545968.5:c.3330+24_3330+25delinsCA ENSP00000442795.1:n.3330+24_3330+25delinsCA
NM_000256.3:c.3330+24_3330+25delinsCA , LRG_386t1:c.3330+24_3330+25delinsCA MANE Select NP_000247.2:n.3330+24_3330+25delinsCA
XM_011520117.1:c.3312+24_3312+25delinsCA XP_011518419.1:n.3312+24_3312+25delinsCA
XM_011520118.1:c.3249+24_3249+25delinsCA XP_011518420.1:n.3249+24_3249+25delinsCA