Canonical Allele Identifier: CA1969335680
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342383_47342385delinsCCT , CM000673.2:g.47342383_47342385delinsCCT GRCh38
NC_000011.9:g.47363934_47363936delinsCCT , CM000673.1:g.47363934_47363936delinsCCT GRCh37
NC_000011.8:g.47320510_47320512delinsCCT NCBI36
NG_007667.1:g.15318_15320delinsAGG , LRG_386:g.15318_15320delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1624+193_1624+195delinsAGG MANE Select ENSP00000442795.1:n.1624+193_1624+195delinsAGG
ENST00000256993.8:c.1624+193_1624+195delinsAGG ENSP00000256993.5:n.1624+193_1624+195delinsAGG
ENST00000399249.6:c.1624+193_1624+195delinsAGG ENSP00000382193.2:n.1624+193_1624+195delinsAGG
ENST00000544791.1:c.1624+193_1624+195delinsAGG ENSP00000444259.1:n.1624+193_1624+195delinsAGG
ENST00000545968.5:c.1624+193_1624+195delinsAGG ENSP00000442795.1:n.1624+193_1624+195delinsAGG
NM_000256.3:c.1624+193_1624+195delinsAGG , LRG_386t1:c.1624+193_1624+195delinsAGG MANE Select NP_000247.2:n.1624+193_1624+195delinsAGG
XM_011520117.1:c.1606+193_1606+195delinsAGG XP_011518419.1:n.1606+193_1606+195delinsAGG
XM_011520118.1:c.1624+193_1624+195delinsAGG XP_011518420.1:n.1624+193_1624+195delinsAGG