Canonical Allele Identifier: CA2791331636
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332706_47332816del , CM000673.2:g.47332706_47332816del GRCh38
NC_000011.9:g.47354257_47354367del , CM000673.1:g.47354257_47354367del GRCh37
NC_000011.8:g.47310833_47310943del NCBI36
NG_007667.1:g.24891_25001del , LRG_386:g.24891_25001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3490+2_3491del
ENST00000256993.8:c.3490+2_3491del
ENST00000399249.6:c.3490+2_3491del
ENST00000545968.5:c.3490+2_3491del
NM_000256.3:c.3490+2_3491del , LRG_386t1:c.3490+2_3491del
XM_011520117.1:c.3472+2_3473del
XM_011520118.1:c.3409+2_3410del