Canonical Allele Identifier: CA296432
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181093
ClinVar RCV Id: RCV000158389 RCV000686721 RCV000770327
dbSNP Id: rs730880666
MyVariant Identifiers: chr11:g.47355219delinsTT (hg19) chr11:g.47333668delinsTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333668delinsTT , CM000673.2:g.47333668delinsTT GRCh38
NC_000011.9:g.47355219delinsTT , CM000673.1:g.47355219delinsTT GRCh37
NC_000011.8:g.47311795delinsTT NCBI36
NG_007667.1:g.24035delinsAA , LRG_386:g.24035delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3079delinsAA MANE Select ENSP00000442795.1:p.Asp1027LysfsTer24
ENST00000256993.8:c.3079delinsAA ENSP00000256993.5:p.Asp1027LysfsTer24
ENST00000399249.6:c.3079delinsAA ENSP00000382193.2:p.Asp1027LysfsTer24
ENST00000545968.5:c.3079delinsAA ENSP00000442795.1:p.Asp1027LysfsTer24
NM_000256.3:c.3079delinsAA , LRG_386t1:c.3079delinsAA MANE Select NP_000247.2:p.Asp1027LysfsTer24
XM_011520117.1:c.3061delinsAA XP_011518419.1:p.Asp1021LysfsTer24
XM_011520118.1:c.2998delinsAA XP_011518420.1:p.Asp1000LysfsTer24
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