Canonical Allele Identifier: CA1619451479
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181657_32181660delinsCAGA , CM000668.2:g.32181657_32181660delinsCAGA GRCh38
NC_000006.11:g.32149434_32149437delinsCAGA , CM000668.1:g.32149434_32149437delinsCAGA GRCh37
NC_000006.10:g.32257412_32257415delinsCAGA NCBI36
NG_029868.1:g.7663_7666delinsTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.965-28_965-25delinsTCTG MANE Select ENSP00000364217.4:n.965-28_965-25delinsTCTG
ENST00000375055.6:c.965-28_965-25delinsTCTG ENSP00000364195.2:n.965-28_965-25delinsTCTG
ENST00000375065.6:c.152-28_152-25delinsTCTG ENSP00000364206.6:n.152-28_152-25delinsTCTG
ENST00000375067.7:c.810-28_810-25delinsTCTG ENSP00000364208.3:n.810-28_810-25delinsTCTG
ENST00000375069.7:c.1013-28_1013-25delinsTCTG ENSP00000364210.4:n.1013-28_1013-25delinsTCTG
ENST00000375070.7:c.662-183_662-180delinsTCTG ENSP00000364211.4:n.662-183_662-180delinsTCTG
ENST00000375076.8:c.965-28_965-25delinsTCTG ENSP00000364217.4:n.965-28_965-25delinsTCTG
ENST00000438221.6:c.1013-28_1013-25delinsTCTG ENSP00000387887.2:n.1013-28_1013-25delinsTCTG
ENST00000473619.5:n.507-28_507-25delinsTCTG
ENST00000484849.5:n.1172-28_1172-25delinsTCTG
ENST00000488669.5:n.507-28_507-25delinsTCTG
ENST00000620802.4:c.283-227_283-224delinsTCTG ENSP00000484081.1:n.283-227_283-224delinsTCTG
NM_001136.4:c.965-28_965-25delinsTCTG NP_001127.1:n.965-28_965-25delinsTCTG
NM_001206929.1:c.1013-28_1013-25delinsTCTG NP_001193858.1:n.1013-28_1013-25delinsTCTG
NM_001206932.1:c.923-28_923-25delinsTCTG NP_001193861.1:n.923-28_923-25delinsTCTG
NM_001206934.1:c.1013-28_1013-25delinsTCTG NP_001193863.1:n.1013-28_1013-25delinsTCTG
NM_001206936.1:c.913-28_913-25delinsTCTG NP_001193865.1:n.913-28_913-25delinsTCTG
NM_001206940.1:c.965-28_965-25delinsTCTG NP_001193869.1:n.965-28_965-25delinsTCTG
NM_001206954.1:c.823-28_823-25delinsTCTG NP_001193883.1:n.823-28_823-25delinsTCTG
NM_001206966.1:c.965-28_965-25delinsTCTG NP_001193895.1:n.965-28_965-25delinsTCTG
NM_172197.2:c.810-28_810-25delinsTCTG NP_751947.1:n.810-28_810-25delinsTCTG
NR_038190.1:n.1248-28_1248-25delinsTCTG
XM_017010328.2:c.964-28_964-25delinsTCTG XP_016865817.1:n.964-28_964-25delinsTCTG
XR_001743189.2:n.1029-28_1029-25delinsTCTG
XR_001743190.2:n.981-28_981-25delinsTCTG
NM_001136.5:c.965-28_965-25delinsTCTG MANE Select NP_001127.1:n.965-28_965-25delinsTCTG
NM_001206932.2:c.923-28_923-25delinsTCTG NP_001193861.1:n.923-28_923-25delinsTCTG
NM_001206936.2:c.913-28_913-25delinsTCTG NP_001193865.1:n.913-28_913-25delinsTCTG
NM_001206940.2:c.965-28_965-25delinsTCTG NP_001193869.1:n.965-28_965-25delinsTCTG
NM_001206954.2:c.823-28_823-25delinsTCTG NP_001193883.1:n.823-28_823-25delinsTCTG
NM_001206966.2:c.965-28_965-25delinsTCTG NP_001193895.1:n.965-28_965-25delinsTCTG
NM_172197.3:c.810-28_810-25delinsTCTG NP_751947.1:n.810-28_810-25delinsTCTG
NR_038190.2:n.1179-28_1179-25delinsTCTG
NM_001206929.2:c.1013-28_1013-25delinsTCTG NP_001193858.1:n.1013-28_1013-25delinsTCTG
NM_001206934.2:c.1013-28_1013-25delinsTCTG NP_001193863.1:n.1013-28_1013-25delinsTCTG