Canonical Allele Identifier: CA014187

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181103
• ClinVar RCV Id: RCV000158403
• dbSNP Id: rs730880675
• MyVariant Identifiers: chr11:g.47354374_47354383del (hg19) ; chr11:g.47332823_47332832del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332825_47332834del , CM000673.2:g.47332825_47332834del	GRCh38
NC_000011.9:g.47354376_47354385del , CM000673.1:g.47354376_47354385del	GRCh37
NC_000011.8:g.47310952_47310961del	NCBI36
NG_007667.1:g.24871_24880del , LRG_386:g.24871_24880del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3472_3481del MANE Select	ENSP00000442795.1:p.Val1158ProfsTer28
ENST00000256993.8:c.3472_3481del	ENSP00000256993.5:p.Val1158ProfsTer28
ENST00000399249.6:c.3472_3481del	ENSP00000382193.2:p.Val1158ProfsTer28
ENST00000545968.5:c.3472_3481del	ENSP00000442795.1:p.Val1158ProfsTer28
NM_000256.3:c.3472_3481del , LRG_386t1:c.3472_3481del MANE Select	NP_000247.2:p.Val1158ProfsTer28
XM_011520117.1:c.3454_3463del	XP_011518419.1:p.Val1152ProfsTer28
XM_011520118.1:c.3391_3400del	XP_011518420.1:p.Val1131ProfsTer28