Canonical Allele Identifier: CA599374431
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v2: 11-47362719-A-ATAC
gnomAD v4: 11-47341168-A-ATAC
MyVariant Identifiers: chr11:g.47362719_47362720insTAC (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341168_47341169insTAC , CM000673.2:g.47341168_47341169insTAC GRCh38
NC_000011.9:g.47362719_47362720insTAC , CM000673.1:g.47362719_47362720insTAC GRCh37
NC_000011.8:g.47319295_47319296insTAC NCBI36
NG_007667.1:g.16534_16535insGTA , LRG_386:g.16534_16535insGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1866_1867insGTA MANE Select ENSP00000442795.1:p.Ala622_Cys623insVal
ENST00000256993.8:c.1866_1867insGTA ENSP00000256993.5:p.Ala622_Cys623insVal
ENST00000399249.6:c.1866_1867insGTA ENSP00000382193.2:p.Ala622_Cys623insVal
ENST00000544791.1:c.1866_1867insGTA ENSP00000444259.1:p.Ala622_Cys623insVal
ENST00000545968.5:c.1866_1867insGTA ENSP00000442795.1:p.Ala622_Cys623insVal
NM_000256.3:c.1866_1867insGTA , LRG_386t1:c.1866_1867insGTA MANE Select NP_000247.2:p.Ala622_Cys623insVal
XM_011520117.1:c.1848_1849insGTA XP_011518419.1:p.Ala616_Cys617insVal
XM_011520118.1:c.1866_1867insGTA XP_011518420.1:p.Ala622_Cys623insVal
Search 100 bp 5'
Search 100 bp 3'