Canonical Allele Identifier: CA2791331044
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333498_47333550del , CM000673.2:g.47333498_47333550del GRCh38
NC_000011.9:g.47355049_47355101del , CM000673.1:g.47355049_47355101del GRCh37
NC_000011.8:g.47311625_47311677del NCBI36
NG_007667.1:g.24161_24213del , LRG_386:g.24161_24213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3190+15_3190+67del MANE Select ENSP00000442795.1:n.3190+15_3190+67del
ENST00000256993.8:c.3190+15_3190+67del ENSP00000256993.5:n.3190+15_3190+67del
ENST00000399249.6:c.3190+15_3190+67del ENSP00000382193.2:n.3190+15_3190+67del
ENST00000545968.5:c.3190+15_3190+67del ENSP00000442795.1:n.3190+15_3190+67del
NM_000256.3:c.3190+15_3190+67del , LRG_386t1:c.3190+15_3190+67del MANE Select NP_000247.2:n.3190+15_3190+67del
XM_011520117.1:c.3172+15_3172+67del XP_011518419.1:n.3172+15_3172+67del
XM_011520118.1:c.3109+15_3109+67del XP_011518420.1:n.3109+15_3109+67del