Canonical Allele Identifier: CA2659522461

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124161-TAAAAGAGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124162_71124171del , CM000664.2:g.71124162_71124171del	GRCh38
NC_000002.11:g.71351292_71351301del , CM000664.1:g.71351292_71351301del	GRCh37
NC_000002.10:g.71204800_71204809del	NCBI36
NG_008977.1:g.11094_11103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+35_378+44del MANE Select	ENSP00000244217.5:n.378+35_378+44del
ENST00000244217.5:c.378+35_378+44del	ENSP00000244217.5:n.378+35_378+44del
ENST00000413592.5:c.84+197_84+206del	ENSP00000391140.1:n.84+197_84+206del
NM_032601.3:c.378+35_378+44del	NP_115990.3:n.378+35_378+44del
XM_005264613.2:c.216+197_216+206del	XP_005264670.1:n.216+197_216+206del
XR_939729.1:n.447+35_447+44del
XR_939729.2:n.447+35_447+44del
NM_032601.4:c.378+35_378+44del MANE Select	NP_115990.3:n.378+35_378+44del