Canonical Allele Identifier: CA2770520146
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181773_32181774insTAG , CM000668.2:g.32181773_32181774insTAG GRCh38
NC_000006.11:g.32149550_32149551insTAG , CM000668.1:g.32149550_32149551insTAG GRCh37
NC_000006.10:g.32257528_32257529insTAG NCBI36
NG_029868.1:g.7549_7550insCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.965-142_965-141insCTA MANE Select ENSP00000364217.4:n.965-142_965-141insCTA
ENST00000375055.6:c.965-142_965-141insCTA ENSP00000364195.2:n.965-142_965-141insCTA
ENST00000375065.6:c.152-142_152-141insCTA ENSP00000364206.6:n.152-142_152-141insCTA
ENST00000375067.7:c.810-142_810-141insCTA ENSP00000364208.3:n.810-142_810-141insCTA
ENST00000375069.7:c.1013-142_1013-141insCTA ENSP00000364210.4:n.1013-142_1013-141insCTA
ENST00000375070.7:c.662-297_662-296insCTA ENSP00000364211.4:n.662-297_662-296insCTA
ENST00000375076.8:c.965-142_965-141insCTA ENSP00000364217.4:n.965-142_965-141insCTA
ENST00000438221.6:c.1013-142_1013-141insCTA ENSP00000387887.2:n.1013-142_1013-141insCTA
ENST00000473619.5:n.507-142_507-141insCTA
ENST00000484849.5:n.1172-142_1172-141insCTA
ENST00000488669.5:n.507-142_507-141insCTA
ENST00000620802.4:c.283-341_283-340insCTA ENSP00000484081.1:n.283-341_283-340insCTA
NM_001136.4:c.965-142_965-141insCTA NP_001127.1:n.965-142_965-141insCTA
NM_001206929.1:c.1013-142_1013-141insCTA NP_001193858.1:n.1013-142_1013-141insCTA
NM_001206932.1:c.923-142_923-141insCTA NP_001193861.1:n.923-142_923-141insCTA
NM_001206934.1:c.1013-142_1013-141insCTA NP_001193863.1:n.1013-142_1013-141insCTA
NM_001206936.1:c.913-142_913-141insCTA NP_001193865.1:n.913-142_913-141insCTA
NM_001206940.1:c.965-142_965-141insCTA NP_001193869.1:n.965-142_965-141insCTA
NM_001206954.1:c.823-142_823-141insCTA NP_001193883.1:n.823-142_823-141insCTA
NM_001206966.1:c.965-142_965-141insCTA NP_001193895.1:n.965-142_965-141insCTA
NM_172197.2:c.810-142_810-141insCTA NP_751947.1:n.810-142_810-141insCTA
NR_038190.1:n.1248-142_1248-141insCTA
XM_017010328.2:c.964-142_964-141insCTA XP_016865817.1:n.964-142_964-141insCTA
XR_001743189.2:n.1029-142_1029-141insCTA
XR_001743190.2:n.981-142_981-141insCTA
NM_001136.5:c.965-142_965-141insCTA MANE Select NP_001127.1:n.965-142_965-141insCTA
NM_001206932.2:c.923-142_923-141insCTA NP_001193861.1:n.923-142_923-141insCTA
NM_001206936.2:c.913-142_913-141insCTA NP_001193865.1:n.913-142_913-141insCTA
NM_001206940.2:c.965-142_965-141insCTA NP_001193869.1:n.965-142_965-141insCTA
NM_001206954.2:c.823-142_823-141insCTA NP_001193883.1:n.823-142_823-141insCTA
NM_001206966.2:c.965-142_965-141insCTA NP_001193895.1:n.965-142_965-141insCTA
NM_172197.3:c.810-142_810-141insCTA NP_751947.1:n.810-142_810-141insCTA
NR_038190.2:n.1179-142_1179-141insCTA
NM_001206929.2:c.1013-142_1013-141insCTA NP_001193858.1:n.1013-142_1013-141insCTA
NM_001206934.2:c.1013-142_1013-141insCTA NP_001193863.1:n.1013-142_1013-141insCTA