Canonical Allele Identifier: CA2613398166

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47341156-C-CTTATTTTTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341157_47341158insTATTTTTTAAT , CM000673.2:g.47341157_47341158insTATTTTTTAAT	GRCh38
NC_000011.9:g.47362708_47362709insTATTTTTTAAT , CM000673.1:g.47362708_47362709insTATTTTTTAAT	GRCh37
NC_000011.8:g.47319284_47319285insTATTTTTTAAT	NCBI36
NG_007667.1:g.16546_16547insTTAAAAAATAA , LRG_386:g.16546_16547insTTAAAAAATAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1878_1879insTTAAAAAATAA MANE Select	ENSP00000442795.1:p.Ala627LeufsTer?
ENST00000256993.8:c.1878_1879insTTAAAAAATAA	ENSP00000256993.5:p.Ala627LeufsTer?
ENST00000399249.6:c.1878_1879insTTAAAAAATAA	ENSP00000382193.2:p.Ala627LeufsTer?
ENST00000544791.1:c.1878_1879insTTAAAAAATAA	ENSP00000444259.1:p.Ala627LeufsTer?
ENST00000545968.5:c.1878_1879insTTAAAAAATAA	ENSP00000442795.1:p.Ala627LeufsTer?
NM_000256.3:c.1878_1879insTTAAAAAATAA , LRG_386t1:c.1878_1879insTTAAAAAATAA MANE Select	NP_000247.2:p.Ala627LeufsTer?
XM_011520117.1:c.1860_1861insTTAAAAAATAA	XP_011518419.1:p.Ala621LeufsTer?
XM_011520118.1:c.1878_1879insTTAAAAAATAA	XP_011518420.1:p.Ala627LeufsTer?