Canonical Allele Identifier: CA2659522607

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124253-A-AACCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124254_71124258dup , CM000664.2:g.71124254_71124258dup	GRCh38
NC_000002.11:g.71351384_71351388dup , CM000664.1:g.71351384_71351388dup	GRCh37
NC_000002.10:g.71204892_71204896dup	NCBI36
NG_008977.1:g.11007_11011dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.326_330dup MANE Select	ENSP00000244217.5:p.Phe111GlnfsTer26
ENST00000244217.5:c.326_330dup	ENSP00000244217.5:p.Phe111GlnfsTer26
ENST00000413592.5:c.84+110_84+114dup	ENSP00000391140.1:n.84+110_84+114dup
ENST00000486135.1:c.41_45dup	ENSP00000441569.1:p.Phe16GlnfsTer?
ENST00000494660.6:c.41_45dup	ENSP00000437361.1:p.Phe16GlnfsTer?
NM_032601.3:c.326_330dup	NP_115990.3:p.Phe111GlnfsTer26
XM_005264613.2:c.216+110_216+114dup	XP_005264670.1:n.216+110_216+114dup
XR_939729.1:n.395_399dup
XR_939729.2:n.395_399dup
NM_032601.4:c.326_330dup MANE Select	NP_115990.3:p.Phe111GlnfsTer26