Canonical Allele Identifier: CA2613401503

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47341977-C-CCAACACACTCACCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341978_47341979insAACACACTCACCGC , CM000673.2:g.47341978_47341979insAACACACTCACCGC	GRCh38
NC_000011.9:g.47363529_47363530insAACACACTCACCGC , CM000673.1:g.47363529_47363530insAACACACTCACCGC	GRCh37
NC_000011.8:g.47320105_47320106insAACACACTCACCGC	NCBI36
NG_007667.1:g.15725_15726insCGGTGAGTGTGTTG , LRG_386:g.15725_15726insCGGTGAGTGTGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1790+13_1790+14insCGGTGAGTGTGTTG MANE Select	ENSP00000442795.1:n.1790+13_1790+14insCGGTGAGTGTGTTG
ENST00000256993.8:c.1790+13_1790+14insCGGTGAGTGTGTTG	ENSP00000256993.5:n.1790+13_1790+14insCGGTGAGTGTGTTG
ENST00000399249.6:c.1790+13_1790+14insCGGTGAGTGTGTTG	ENSP00000382193.2:n.1790+13_1790+14insCGGTGAGTGTGTTG
ENST00000544791.1:c.1790+13_1790+14insCGGTGAGTGTGTTG	ENSP00000444259.1:n.1790+13_1790+14insCGGTGAGTGTGTTG
ENST00000545968.5:c.1790+13_1790+14insCGGTGAGTGTGTTG	ENSP00000442795.1:n.1790+13_1790+14insCGGTGAGTGTGTTG
NM_000256.3:c.1790+13_1790+14insCGGTGAGTGTGTTG , LRG_386t1:c.1790+13_1790+14insCGGTGAGTGTGTTG MANE Select	NP_000247.2:n.1790+13_1790+14insCGGTGAGTGTGTTG
XM_011520117.1:c.1772+13_1772+14insCGGTGAGTGTGTTG	XP_011518419.1:n.1772+13_1772+14insCGGTGAGTGTGTTG
XM_011520118.1:c.1790+13_1790+14insCGGTGAGTGTGTTG	XP_011518420.1:n.1790+13_1790+14insCGGTGAGTGTGTTG