Canonical Allele Identifier: CA012500
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181081
ClinVar RCV Id: RCV000158368 RCV001061018 RCV001798535
dbSNP Id: rs730880654
MyVariant Identifiers: chr11:g.47359006_47359012del (hg19) chr11:g.47337455_47337461del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337455_47337461del , CM000673.2:g.47337455_47337461del GRCh38
NC_000011.9:g.47359006_47359012del , CM000673.1:g.47359006_47359012del GRCh37
NC_000011.8:g.47315582_47315588del NCBI36
NG_007667.1:g.20242_20248del , LRG_386:g.20242_20248del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2532_2538del MANE Select ENSP00000442795.1:p.Met844IlefsTer?
ENST00000256993.8:c.2532_2538del ENSP00000256993.5:p.Met844IlefsTer?
ENST00000399249.6:c.2532_2538del ENSP00000382193.2:p.Met844IlefsTer?
ENST00000544791.1:c.*37_*43del ENSP00000444259.1:n.*37_*43del
ENST00000545968.5:c.2532_2538del ENSP00000442795.1:p.Met844IlefsTer?
NM_000256.3:c.2532_2538del , LRG_386t1:c.2532_2538del MANE Select NP_000247.2:p.Met844IlefsTer?
XM_011520117.1:c.2514_2520del XP_011518419.1:p.Met838IlefsTer?
XM_011520118.1:c.2451_2457del XP_011518420.1:p.Met817IlefsTer?
Search 100 bp 5'
Search 100 bp 3'