Canonical Allele Identifier: CA2659522599

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124239-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124244dup , CM000664.2:g.71124244dup	GRCh38
NC_000002.11:g.71351374dup , CM000664.1:g.71351374dup	GRCh37
NC_000002.10:g.71204882dup	NCBI36
NG_008977.1:g.11025dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.344dup MANE Select	ENSP00000244217.5:p.Asn115LysfsTer15
ENST00000244217.5:c.344dup	ENSP00000244217.5:p.Asn115LysfsTer15
ENST00000413592.5:c.84+128dup	ENSP00000391140.1:n.84+128dup
ENST00000486135.1:c.59dup	ENSP00000441569.1:p.Asn20LysfsTer?
ENST00000494660.6:c.59dup	ENSP00000437361.1:p.Asn20LysfsTer?
NM_032601.3:c.344dup	NP_115990.3:p.Asn115LysfsTer15
XM_005264613.2:c.216+128dup	XP_005264670.1:n.216+128dup
XR_939729.1:n.413dup
XR_939729.2:n.413dup
NM_032601.4:c.344dup MANE Select	NP_115990.3:p.Asn115LysfsTer15