Canonical Allele Identifier: CA2613401235

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47351198-C-CCCCCACCCCAAAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351199_47351200insCCCACCCCAAAACAC , CM000673.2:g.47351199_47351200insCCCACCCCAAAACAC	GRCh38
NC_000011.9:g.47372750_47372751insCCCACCCCAAAACAC , CM000673.1:g.47372750_47372751insCCCACCCCAAAACAC	GRCh37
NC_000011.8:g.47329326_47329327insCCCACCCCAAAACAC	NCBI36
NG_007667.1:g.6504_6505insTGTTTTGGGGTGGGG , LRG_386:g.6504_6505insTGTTTTGGGGTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.292+40_292+41insTGTTTTGGGGTGGGG MANE Select	ENSP00000442795.1:n.292+40_292+41insTGTTTTGGGGTGGGG
ENST00000256993.8:c.292+40_292+41insTGTTTTGGGGTGGGG	ENSP00000256993.5:n.292+40_292+41insTGTTTTGGGGTGGGG
ENST00000399249.6:c.292+40_292+41insTGTTTTGGGGTGGGG	ENSP00000382193.2:n.292+40_292+41insTGTTTTGGGGTGGGG
ENST00000544791.1:c.292+40_292+41insTGTTTTGGGGTGGGG	ENSP00000444259.1:n.292+40_292+41insTGTTTTGGGGTGGGG
ENST00000545968.5:c.292+40_292+41insTGTTTTGGGGTGGGG	ENSP00000442795.1:n.292+40_292+41insTGTTTTGGGGTGGGG
NM_000256.3:c.292+40_292+41insTGTTTTGGGGTGGGG , LRG_386t1:c.292+40_292+41insTGTTTTGGGGTGGGG MANE Select	NP_000247.2:n.292+40_292+41insTGTTTTGGGGTGGGG
XM_011520117.1:c.292+40_292+41insTGTTTTGGGGTGGGG	XP_011518419.1:n.292+40_292+41insTGTTTTGGGGTGGGG
XM_011520118.1:c.292+40_292+41insTGTTTTGGGGTGGGG	XP_011518420.1:n.292+40_292+41insTGTTTTGGGGTGGGG