Canonical Allele Identifier: CA2613396646
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339926_47339927insCCTACTGTCAG , CM000673.2:g.47339926_47339927insCCTACTGTCAG GRCh38
NC_000011.9:g.47361477_47361478insCCTACTGTCAG , CM000673.1:g.47361477_47361478insCCTACTGTCAG GRCh37
NC_000011.8:g.47318053_47318054insCCTACTGTCAG NCBI36
NG_007667.1:g.17780_17781insCAGTAGGCTGA , LRG_386:g.17780_17781insCAGTAGGCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1928-133_1928-132insCAGTAGGCTGA MANE Select ENSP00000442795.1:n.1928-133_1928-132insCAGTAGGCTGA
ENST00000256993.8:c.1928-133_1928-132insCAGTAGGCTGA ENSP00000256993.5:n.1928-133_1928-132insCAGTAGGCTGA
ENST00000399249.6:c.1928-133_1928-132insCAGTAGGCTGA ENSP00000382193.2:n.1928-133_1928-132insCAGTAGGCTGA
ENST00000544791.1:c.1928-133_1928-132insCAGTAGGCTGA ENSP00000444259.1:n.1928-133_1928-132insCAGTAGGCTGA
ENST00000545968.5:c.1928-133_1928-132insCAGTAGGCTGA ENSP00000442795.1:n.1928-133_1928-132insCAGTAGGCTGA
NM_000256.3:c.1928-133_1928-132insCAGTAGGCTGA , LRG_386t1:c.1928-133_1928-132insCAGTAGGCTGA MANE Select NP_000247.2:n.1928-133_1928-132insCAGTAGGCTGA
XM_011520117.1:c.1910-133_1910-132insCAGTAGGCTGA XP_011518419.1:n.1910-133_1910-132insCAGTAGGCTGA
XM_011520118.1:c.1928-133_1928-132insCAGTAGGCTGA XP_011518420.1:n.1928-133_1928-132insCAGTAGGCTGA