Canonical Allele Identifier: CA894279116
Gene: EIF2AK3 HGNC NCBI

Linked Data

dbSNP Id: rs1188952589

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88583327_88583328del , CM000664.2:g.88583327_88583328del GRCh38
NC_000002.11:g.88882845_88882846del , CM000664.1:g.88882845_88882846del GRCh37
NC_000002.10:g.88663960_88663961del NCBI36
NG_016424.1:g.49250_49251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682276.1:n.1208+103_1208+104del
ENST00000682892.1:c.1310+103_1310+104del ENSP00000507214.1:n.1310+103_1310+104del
ENST00000682952.1:n.1402+103_1402+104del
ENST00000684455.1:c.976+103_976+104del
ENST00000684642.1:c.1160+103_1160+104del ENSP00000507355.1:n.1160+103_1160+104del
ENST00000303236.9:c.1763+103_1763+104del MANE Select ENSP00000307235.3:n.1763+103_1763+104del
ENST00000652099.1:c.1957+103_1957+104del
ENST00000652736.1:n.1639+103_1639+104del
ENST00000303236.7:c.1763+103_1763+104del ENSP00000307235.3:n.1763+103_1763+104del
ENST00000415570.1:c.1400+103_1400+104del ENSP00000412076.1:n.1400+103_1400+104del
ENST00000419748.5:c.1310+103_1310+104del ENSP00000408325.1:n.1310+103_1310+104del
NM_001313915.1:c.1310+103_1310+104del NP_001300844.1:n.1310+103_1310+104del
NM_004836.5:c.1763+103_1763+104del NP_004827.4:n.1763+103_1763+104del
NM_004836.6:c.1763+103_1763+104del NP_004827.4:n.1763+103_1763+104del
XM_005264649.3:c.1079+103_1079+104del XP_005264706.1:n.1079+103_1079+104del
XR_939749.1:n.1972+103_1972+104del
XM_017005376.2:c.1079+103_1079+104del XP_016860865.1:n.1079+103_1079+104del
NM_004836.7:c.1763+103_1763+104del MANE Select NP_004827.4:n.1763+103_1763+104del
NM_001313915.2:c.1310+103_1310+104del NP_001300844.1:n.1310+103_1310+104del