Canonical Allele Identifier: CA1259891288

Gene: MCEE

Linked Data

• ClinVar Variation Id: 1007045
• ClinVar RCV Id: RCV001304178
• dbSNP Id: rs1673171875

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124357_71124358delinsAT , CM000664.2:g.71124357_71124358delinsAT	GRCh38
NC_000002.11:g.71351487_71351488delinsAT , CM000664.1:g.71351487_71351488delinsAT	GRCh37
NC_000002.10:g.71204995_71204996delinsAT	NCBI36
NG_008977.1:g.10907_10908delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.226_227delinsAT MANE Select	ENSP00000244217.5:p.Ala76Met
ENST00000244217.5:c.226_227delinsAT	ENSP00000244217.5:p.Ala76Met
ENST00000413592.5:c.84+10_84+11delinsAT	ENSP00000391140.1:n.84+10_84+11delinsAT
ENST00000486135.1:c.-60_-59delinsAT	ENSP00000441569.1:n.-60_-59delinsAT
ENST00000494660.6:c.-60_-59delinsAT	ENSP00000437361.1:n.-60_-59delinsAT
NM_032601.3:c.226_227delinsAT	NP_115990.3:p.Ala76Met
XM_005264613.2:c.216+10_216+11delinsAT	XP_005264670.1:n.216+10_216+11delinsAT
XR_939729.1:n.295_296delinsAT
XR_939729.2:n.295_296delinsAT
NM_032601.4:c.226_227delinsAT MANE Select	NP_115990.3:p.Ala76Met