Canonical Allele Identifier: CA892637146

Gene: MCEE

Linked Data

• dbSNP Id: rs1344282484
• gnomAD v3: 2-71124081-TATC-T
• gnomAD v4: 2-71124081-TATC-T
• MyVariant Identifiers: chr2:g.71351212_71351214del (hg19) ; chr2:g.71124082_71124084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124084_71124086del , CM000664.2:g.71124084_71124086del	GRCh38
NC_000002.11:g.71351214_71351216del , CM000664.1:g.71351214_71351216del	GRCh37
NC_000002.10:g.71204722_71204724del	NCBI36
NG_008977.1:g.11181_11183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+122_378+124del MANE Select	ENSP00000244217.5:n.378+122_378+124del
ENST00000244217.5:c.378+122_378+124del	ENSP00000244217.5:n.378+122_378+124del
ENST00000413592.5:c.84+284_84+286del	ENSP00000391140.1:n.84+284_84+286del
NM_032601.3:c.378+122_378+124del	NP_115990.3:n.378+122_378+124del
XM_005264613.2:c.216+284_216+286del	XP_005264670.1:n.216+284_216+286del
XR_939729.1:n.447+122_447+124del
XR_939729.2:n.447+122_447+124del
NM_032601.4:c.378+122_378+124del MANE Select	NP_115990.3:n.378+122_378+124del