Canonical Allele Identifier: CA2659522378

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124072-GATGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124075_71124078del , CM000664.2:g.71124075_71124078del	GRCh38
NC_000002.11:g.71351205_71351208del , CM000664.1:g.71351205_71351208del	GRCh37
NC_000002.10:g.71204713_71204716del	NCBI36
NG_008977.1:g.11189_11192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+130_378+133del MANE Select	ENSP00000244217.5:n.378+130_378+133del
ENST00000244217.5:c.378+130_378+133del	ENSP00000244217.5:n.378+130_378+133del
ENST00000413592.5:c.84+292_84+295del	ENSP00000391140.1:n.84+292_84+295del
NM_032601.3:c.378+130_378+133del	NP_115990.3:n.378+130_378+133del
XM_005264613.2:c.216+292_216+295del	XP_005264670.1:n.216+292_216+295del
XR_939729.1:n.447+130_447+133del
XR_939729.2:n.447+130_447+133del
NM_032601.4:c.378+130_378+133del MANE Select	NP_115990.3:n.378+130_378+133del