Canonical Allele Identifier: CA2791323254
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47340872_47340874del , CM000673.2:g.47340872_47340874del GRCh38
NC_000011.9:g.47362423_47362425del , CM000673.1:g.47362423_47362425del GRCh37
NC_000011.8:g.47318999_47319001del NCBI36
NG_007667.1:g.16829_16831del , LRG_386:g.16829_16831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1927+129_1927+131del MANE Select ENSP00000442795.1:n.1927+129_1927+131del
ENST00000256993.8:c.1927+129_1927+131del ENSP00000256993.5:n.1927+129_1927+131del
ENST00000399249.6:c.1927+129_1927+131del ENSP00000382193.2:n.1927+129_1927+131del
ENST00000544791.1:c.1927+129_1927+131del ENSP00000444259.1:n.1927+129_1927+131del
ENST00000545968.5:c.1927+129_1927+131del ENSP00000442795.1:n.1927+129_1927+131del
NM_000256.3:c.1927+129_1927+131del , LRG_386t1:c.1927+129_1927+131del MANE Select NP_000247.2:n.1927+129_1927+131del
XM_011520117.1:c.1909+129_1909+131del XP_011518419.1:n.1909+129_1909+131del
XM_011520118.1:c.1927+129_1927+131del XP_011518420.1:n.1927+129_1927+131del