Canonical Allele Identifier: CA2678126664
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181325_32181326del , CM000668.2:g.32181325_32181326del GRCh38
NC_000006.11:g.32149102_32149103del , CM000668.1:g.32149102_32149103del GRCh37
NC_000006.10:g.32257080_32257081del NCBI36
NG_029868.1:g.7997_7998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1118+25_1118+26del MANE Select ENSP00000364217.4:n.1118+25_1118+26del
ENST00000375055.6:c.*30-87_*30-86del ENSP00000364195.2:n.*30-87_*30-86del
ENST00000375065.6:c.305+25_305+26del ENSP00000364206.6:n.305+25_305+26del
ENST00000375067.7:c.963+25_963+26del ENSP00000364208.3:n.963+25_963+26del
ENST00000375069.7:c.1166+25_1166+26del ENSP00000364210.4:n.1166+25_1166+26del
ENST00000375070.7:c.788+25_788+26del ENSP00000364211.4:n.788+25_788+26del
ENST00000375076.8:c.1118+25_1118+26del ENSP00000364217.4:n.1118+25_1118+26del
ENST00000438221.6:c.*30-87_*30-86del ENSP00000387887.2:n.*30-87_*30-86del
ENST00000469940.5:n.285+25_285+26del
ENST00000473619.5:n.660+25_660+26del
ENST00000484849.5:n.1325+25_1325+26del
ENST00000488669.5:n.616-87_616-86del
ENST00000620802.4:c.365+25_365+26del ENSP00000484081.1:n.365+25_365+26del
NM_001136.4:c.1118+25_1118+26del NP_001127.1:n.1118+25_1118+26del
NM_001206929.1:c.1166+25_1166+26del NP_001193858.1:n.1166+25_1166+26del
NM_001206932.1:c.1076+25_1076+26del NP_001193861.1:n.1076+25_1076+26del
NM_001206934.1:c.*30-87_*30-86del NP_001193863.1:n.*30-87_*30-86del
NM_001206936.1:c.1022-87_1022-86del NP_001193865.1:n.1022-87_1022-86del
NM_001206940.1:c.*30-87_*30-86del NP_001193869.1:n.*30-87_*30-86del
NM_001206954.1:c.932-87_932-86del NP_001193883.1:n.932-87_932-86del
NM_001206966.1:c.*30-185_*30-184del NP_001193895.1:n.*30-185_*30-184del
NM_172197.2:c.963+25_963+26del NP_751947.1:n.963+25_963+26del
NR_038190.1:n.1401+25_1401+26del
XM_017010328.2:c.1073-87_1073-86del XP_016865817.1:n.1073-87_1073-86del
XR_001743189.2:n.1182+25_1182+26del
XR_001743190.2:n.1134+25_1134+26del
NM_001136.5:c.1118+25_1118+26del MANE Select NP_001127.1:n.1118+25_1118+26del
NM_001206932.2:c.1076+25_1076+26del NP_001193861.1:n.1076+25_1076+26del
NM_001206936.2:c.1022-87_1022-86del NP_001193865.1:n.1022-87_1022-86del
NM_001206940.2:c.*30-87_*30-86del NP_001193869.1:n.*30-87_*30-86del
NM_001206954.2:c.932-87_932-86del NP_001193883.1:n.932-87_932-86del
NM_001206966.2:c.*30-185_*30-184del NP_001193895.1:n.*30-185_*30-184del
NM_172197.3:c.963+25_963+26del NP_751947.1:n.963+25_963+26del
NR_038190.2:n.1332+25_1332+26del
NM_001206929.2:c.1166+25_1166+26del NP_001193858.1:n.1166+25_1166+26del
NM_001206934.2:c.*30-87_*30-86del NP_001193863.1:n.*30-87_*30-86del