Canonical Allele Identifier: CA2613401246

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47337474-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337474_47337475insTG , CM000673.2:g.47337474_47337475insTG	GRCh38
NC_000011.9:g.47359025_47359026insTG , CM000673.1:g.47359025_47359026insTG	GRCh37
NC_000011.8:g.47315601_47315602insTG	NCBI36
NG_007667.1:g.20228_20229insCA , LRG_386:g.20228_20229insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2518_2519insCA MANE Select	ENSP00000442795.1:p.Val840AlafsTer?
ENST00000256993.8:c.2518_2519insCA	ENSP00000256993.5:p.Val840AlafsTer?
ENST00000399249.6:c.2518_2519insCA	ENSP00000382193.2:p.Val840AlafsTer?
ENST00000544791.1:c.*23_*24insCA	ENSP00000444259.1:n.*23_*24insCA
ENST00000545968.5:c.2518_2519insCA	ENSP00000442795.1:p.Val840AlafsTer?
NM_000256.3:c.2518_2519insCA , LRG_386t1:c.2518_2519insCA MANE Select	NP_000247.2:p.Val840AlafsTer?
XM_011520117.1:c.2500_2501insCA	XP_011518419.1:p.Val834AlafsTer?
XM_011520118.1:c.2437_2438insCA	XP_011518420.1:p.Val813AlafsTer?