Canonical Allele Identifier: CA2697548208
Gene: MCEE HGNC NCBI

Linked Data

ClinVar Variation Id: 2735271
ClinVar RCV Id: RCV003499961

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124204_71124211del , CM000664.2:g.71124204_71124211del GRCh38
NC_000002.11:g.71351334_71351341del , CM000664.1:g.71351334_71351341del GRCh37
NC_000002.10:g.71204842_71204849del NCBI36
NG_008977.1:g.11056_11063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.375_378+4del
ENST00000244217.5:c.375_378+4del
ENST00000413592.5:c.84+159_84+166del ENSP00000391140.1:n.84+159_84+166del
NM_032601.3:c.375_378+4del
XM_005264613.2:c.216+159_216+166del XP_005264670.1:n.216+159_216+166del
XR_939729.1:n.444_447+4del
XR_939729.2:n.444_447+4del
NM_032601.4:c.375_378+4del