Canonical Allele Identifier: CA16619338
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 418781
ClinVar RCV Id: RCV000487280
dbSNP Id: rs1064793429
MyVariant Identifiers: chr11:g.47360221_47360222del (hg19) chr11:g.47338670_47338671del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338674_47338675del , CM000673.2:g.47338674_47338675del GRCh38
NC_000011.9:g.47360225_47360226del , CM000673.1:g.47360225_47360226del GRCh37
NC_000011.8:g.47316801_47316802del NCBI36
NG_007667.1:g.19032_19033del , LRG_386:g.19032_19033del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2157_2158del MANE Select ENSP00000442795.1:p.Cys719Ter
ENST00000256993.8:c.2157_2158del ENSP00000256993.5:p.Cys719Ter
ENST00000399249.6:c.2157_2158del ENSP00000382193.2:p.Cys719Ter
ENST00000544791.1:c.2157_2158del ENSP00000444259.1:p.Cys719Ter
ENST00000545968.5:c.2157_2158del ENSP00000442795.1:p.Cys719Ter
NM_000256.3:c.2157_2158del , LRG_386t1:c.2157_2158del MANE Select NP_000247.2:p.Cys719Ter
XM_011520117.1:c.2139_2140del XP_011518419.1:p.Cys713Ter
XM_011520118.1:c.2076_2077del XP_011518420.1:p.Cys692Ter
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