Canonical Allele Identifier: CA913190259
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 619258
ClinVar RCV Id: RCV000768478
dbSNP Id: rs1565623216

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333331_47333344del , CM000673.2:g.47333331_47333344del GRCh38
NC_000011.9:g.47354882_47354895del , CM000673.1:g.47354882_47354895del GRCh37
NC_000011.8:g.47311458_47311471del NCBI36
NG_007667.1:g.24359_24372del , LRG_386:g.24359_24372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3191-11_3193del
ENST00000256993.8:c.3191-11_3193del
ENST00000399249.6:c.3191-11_3193del
ENST00000545968.5:c.3191-11_3193del
NM_000256.3:c.3191-11_3193del , LRG_386t1:c.3191-11_3193del
XM_011520117.1:c.3173-11_3175del
XM_011520118.1:c.3110-11_3112del