Canonical Allele Identifier: CA891842472
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 582753
ClinVar RCV Id: RCV000706903
dbSNP Id: rs1565625181
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337446_47337447delinsAC , CM000673.2:g.47337446_47337447delinsAC GRCh38
NC_000011.9:g.47358997_47358998delinsAC , CM000673.1:g.47358997_47358998delinsAC GRCh37
NC_000011.8:g.47315573_47315574delinsAC NCBI36
NG_007667.1:g.20256_20257delinsGT , LRG_386:g.20256_20257delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2546_2547delinsGT MANE Select ENSP00000442795.1:p.Val849Gly
ENST00000256993.8:c.2546_2547delinsGT ENSP00000256993.5:p.Val849Gly
ENST00000399249.6:c.2546_2547delinsGT ENSP00000382193.2:p.Val849Gly
ENST00000544791.1:c.*51_*52delinsGT ENSP00000444259.1:n.*51_*52delinsGT
ENST00000545968.5:c.2546_2547delinsGT ENSP00000442795.1:p.Val849Gly
NM_000256.3:c.2546_2547delinsGT , LRG_386t1:c.2546_2547delinsGT MANE Select NP_000247.2:p.Val849Gly
XM_011520117.1:c.2528_2529delinsGT XP_011518419.1:p.Val843Gly
XM_011520118.1:c.2465_2466delinsGT XP_011518420.1:p.Val822Gly
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