Canonical Allele Identifier: CA2556516393
Gene: MCEE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124353_71124354del , CM000664.2:g.71124353_71124354del GRCh38
NC_000002.11:g.71351483_71351484del , CM000664.1:g.71351483_71351484del GRCh37
NC_000002.10:g.71204991_71204992del NCBI36
NG_008977.1:g.10911_10912del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.230_231del MANE Select ENSP00000244217.5:p.Val77AlafsTer4
ENST00000244217.5:c.230_231del ENSP00000244217.5:p.Val77AlafsTer4
ENST00000413592.5:c.84+14_84+15del ENSP00000391140.1:n.84+14_84+15del
ENST00000486135.1:c.-56_-55del ENSP00000441569.1:n.-56_-55del
ENST00000494660.6:c.-56_-55del ENSP00000437361.1:n.-56_-55del
NM_032601.3:c.230_231del NP_115990.3:p.Val77AlafsTer4
XM_005264613.2:c.216+14_216+15del XP_005264670.1:n.216+14_216+15del
XR_939729.1:n.299_300del
XR_939729.2:n.299_300del
NM_032601.4:c.230_231del MANE Select NP_115990.3:p.Val77AlafsTer4