Canonical Allele Identifier: CA2770520141
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181729_32181734dup , CM000668.2:g.32181729_32181734dup GRCh38
NC_000006.11:g.32149506_32149511dup , CM000668.1:g.32149506_32149511dup GRCh37
NC_000006.10:g.32257484_32257489dup NCBI36
NG_029868.1:g.7594_7599dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.965-97_965-92dup MANE Select ENSP00000364217.4:n.965-97_965-92dup
ENST00000375055.6:c.965-97_965-92dup ENSP00000364195.2:n.965-97_965-92dup
ENST00000375065.6:c.152-97_152-92dup ENSP00000364206.6:n.152-97_152-92dup
ENST00000375067.7:c.810-97_810-92dup ENSP00000364208.3:n.810-97_810-92dup
ENST00000375069.7:c.1013-97_1013-92dup ENSP00000364210.4:n.1013-97_1013-92dup
ENST00000375070.7:c.662-252_662-247dup ENSP00000364211.4:n.662-252_662-247dup
ENST00000375076.8:c.965-97_965-92dup ENSP00000364217.4:n.965-97_965-92dup
ENST00000438221.6:c.1013-97_1013-92dup ENSP00000387887.2:n.1013-97_1013-92dup
ENST00000473619.5:n.507-97_507-92dup
ENST00000484849.5:n.1172-97_1172-92dup
ENST00000488669.5:n.507-97_507-92dup
ENST00000620802.4:c.283-296_283-291dup ENSP00000484081.1:n.283-296_283-291dup
NM_001136.4:c.965-97_965-92dup NP_001127.1:n.965-97_965-92dup
NM_001206929.1:c.1013-97_1013-92dup NP_001193858.1:n.1013-97_1013-92dup
NM_001206932.1:c.923-97_923-92dup NP_001193861.1:n.923-97_923-92dup
NM_001206934.1:c.1013-97_1013-92dup NP_001193863.1:n.1013-97_1013-92dup
NM_001206936.1:c.913-97_913-92dup NP_001193865.1:n.913-97_913-92dup
NM_001206940.1:c.965-97_965-92dup NP_001193869.1:n.965-97_965-92dup
NM_001206954.1:c.823-97_823-92dup NP_001193883.1:n.823-97_823-92dup
NM_001206966.1:c.965-97_965-92dup NP_001193895.1:n.965-97_965-92dup
NM_172197.2:c.810-97_810-92dup NP_751947.1:n.810-97_810-92dup
NR_038190.1:n.1248-97_1248-92dup
XM_017010328.2:c.964-97_964-92dup XP_016865817.1:n.964-97_964-92dup
XR_001743189.2:n.1029-97_1029-92dup
XR_001743190.2:n.981-97_981-92dup
NM_001136.5:c.965-97_965-92dup MANE Select NP_001127.1:n.965-97_965-92dup
NM_001206932.2:c.923-97_923-92dup NP_001193861.1:n.923-97_923-92dup
NM_001206936.2:c.913-97_913-92dup NP_001193865.1:n.913-97_913-92dup
NM_001206940.2:c.965-97_965-92dup NP_001193869.1:n.965-97_965-92dup
NM_001206954.2:c.823-97_823-92dup NP_001193883.1:n.823-97_823-92dup
NM_001206966.2:c.965-97_965-92dup NP_001193895.1:n.965-97_965-92dup
NM_172197.3:c.810-97_810-92dup NP_751947.1:n.810-97_810-92dup
NR_038190.2:n.1179-97_1179-92dup
NM_001206929.2:c.1013-97_1013-92dup NP_001193858.1:n.1013-97_1013-92dup
NM_001206934.2:c.1013-97_1013-92dup NP_001193863.1:n.1013-97_1013-92dup