Canonical Allele Identifier: CA16613382
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 407322
ClinVar RCV Id: RCV000469319
dbSNP Id: rs1060501481

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337421_47337422insTT , CM000673.2:g.47337421_47337422insTT GRCh38
NC_000011.9:g.47358972_47358973insTT , CM000673.1:g.47358972_47358973insTT GRCh37
NC_000011.8:g.47315548_47315549insTT NCBI36
NG_007667.1:g.20282_20283insAA , LRG_386:g.20282_20283insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2572_2573insAA MANE Select ENSP00000442795.1:p.Ser858LysfsTer22
ENST00000256993.8:c.2572_2573insAA ENSP00000256993.5:p.Ser858LysfsTer22
ENST00000399249.6:c.2572_2573insAA ENSP00000382193.2:p.Ser858LysfsTer22
ENST00000544791.1:c.*77_*78insAA ENSP00000444259.1:n.*77_*78insAA
ENST00000545968.5:c.2572_2573insAA ENSP00000442795.1:p.Ser858LysfsTer22
NM_000256.3:c.2572_2573insAA , LRG_386t1:c.2572_2573insAA MANE Select NP_000247.2:p.Ser858LysfsTer22
XM_011520117.1:c.2554_2555insAA XP_011518419.1:p.Ser852LysfsTer22
XM_011520118.1:c.2491_2492insAA XP_011518420.1:p.Ser831LysfsTer22