Canonical Allele Identifier: CA2613394392

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47333881-G-GTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333881_47333882insTTC , CM000673.2:g.47333881_47333882insTTC	GRCh38
NC_000011.9:g.47355432_47355433insTTC , CM000673.1:g.47355432_47355433insTTC	GRCh37
NC_000011.8:g.47312008_47312009insTTC	NCBI36
NG_007667.1:g.23821_23822insGAA , LRG_386:g.23821_23822insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2994+40_2994+41insGAA MANE Select	ENSP00000442795.1:n.2994+40_2994+41insGAA
ENST00000256993.8:c.2994+40_2994+41insGAA	ENSP00000256993.5:n.2994+40_2994+41insGAA
ENST00000399249.6:c.2994+40_2994+41insGAA	ENSP00000382193.2:n.2994+40_2994+41insGAA
ENST00000545968.5:c.2994+40_2994+41insGAA	ENSP00000442795.1:n.2994+40_2994+41insGAA
NM_000256.3:c.2994+40_2994+41insGAA , LRG_386t1:c.2994+40_2994+41insGAA MANE Select	NP_000247.2:n.2994+40_2994+41insGAA
XM_011520117.1:c.2976+40_2976+41insGAA	XP_011518419.1:n.2976+40_2976+41insGAA
XM_011520118.1:c.2913+40_2913+41insGAA	XP_011518420.1:n.2913+40_2913+41insGAA