Canonical Allele Identifier: CA937669144

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47337979-TGGAG-T
• gnomAD v4: 11-47337979-TGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337980_47337983del , CM000673.2:g.47337980_47337983del	GRCh38
NC_000011.9:g.47359531_47359534del , CM000673.1:g.47359531_47359534del	GRCh37
NC_000011.8:g.47316107_47316110del	NCBI36
NG_007667.1:g.19720_19723del , LRG_386:g.19720_19723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2309-189_2309-186del MANE Select	ENSP00000442795.1:n.2309-189_2309-186del
ENST00000256993.8:c.2309-189_2309-186del	ENSP00000256993.5:n.2309-189_2309-186del
ENST00000399249.6:c.2309-189_2309-186del	ENSP00000382193.2:n.2309-189_2309-186del
ENST00000544791.1:c.2309-189_2309-186del	ENSP00000444259.1:n.2309-189_2309-186del
ENST00000545968.5:c.2309-189_2309-186del	ENSP00000442795.1:n.2309-189_2309-186del
NM_000256.3:c.2309-189_2309-186del , LRG_386t1:c.2309-189_2309-186del MANE Select	NP_000247.2:n.2309-189_2309-186del
XM_011520117.1:c.2291-189_2291-186del	XP_011518419.1:n.2291-189_2291-186del
XM_011520118.1:c.2228-189_2228-186del	XP_011518420.1:n.2228-189_2228-186del