Canonical Allele Identifier: CA1619451521
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181723_32181724delinsCT , CM000668.2:g.32181723_32181724delinsCT GRCh38
NC_000006.11:g.32149500_32149501delinsCT , CM000668.1:g.32149500_32149501delinsCT GRCh37
NC_000006.10:g.32257478_32257479delinsCT NCBI36
NG_029868.1:g.7599_7600delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.965-92_965-91delinsAG MANE Select ENSP00000364217.4:n.965-92_965-91delinsAG
ENST00000375055.6:c.965-92_965-91delinsAG ENSP00000364195.2:n.965-92_965-91delinsAG
ENST00000375065.6:c.152-92_152-91delinsAG ENSP00000364206.6:n.152-92_152-91delinsAG
ENST00000375067.7:c.810-92_810-91delinsAG ENSP00000364208.3:n.810-92_810-91delinsAG
ENST00000375069.7:c.1013-92_1013-91delinsAG ENSP00000364210.4:n.1013-92_1013-91delinsAG
ENST00000375070.7:c.662-247_662-246delinsAG ENSP00000364211.4:n.662-247_662-246delinsAG
ENST00000375076.8:c.965-92_965-91delinsAG ENSP00000364217.4:n.965-92_965-91delinsAG
ENST00000438221.6:c.1013-92_1013-91delinsAG ENSP00000387887.2:n.1013-92_1013-91delinsAG
ENST00000473619.5:n.507-92_507-91delinsAG
ENST00000484849.5:n.1172-92_1172-91delinsAG
ENST00000488669.5:n.507-92_507-91delinsAG
ENST00000620802.4:c.283-291_283-290delinsAG ENSP00000484081.1:n.283-291_283-290delinsAG
NM_001136.4:c.965-92_965-91delinsAG NP_001127.1:n.965-92_965-91delinsAG
NM_001206929.1:c.1013-92_1013-91delinsAG NP_001193858.1:n.1013-92_1013-91delinsAG
NM_001206932.1:c.923-92_923-91delinsAG NP_001193861.1:n.923-92_923-91delinsAG
NM_001206934.1:c.1013-92_1013-91delinsAG NP_001193863.1:n.1013-92_1013-91delinsAG
NM_001206936.1:c.913-92_913-91delinsAG NP_001193865.1:n.913-92_913-91delinsAG
NM_001206940.1:c.965-92_965-91delinsAG NP_001193869.1:n.965-92_965-91delinsAG
NM_001206954.1:c.823-92_823-91delinsAG NP_001193883.1:n.823-92_823-91delinsAG
NM_001206966.1:c.965-92_965-91delinsAG NP_001193895.1:n.965-92_965-91delinsAG
NM_172197.2:c.810-92_810-91delinsAG NP_751947.1:n.810-92_810-91delinsAG
NR_038190.1:n.1248-92_1248-91delinsAG
XM_017010328.2:c.964-92_964-91delinsAG XP_016865817.1:n.964-92_964-91delinsAG
XR_001743189.2:n.1029-92_1029-91delinsAG
XR_001743190.2:n.981-92_981-91delinsAG
NM_001136.5:c.965-92_965-91delinsAG MANE Select NP_001127.1:n.965-92_965-91delinsAG
NM_001206932.2:c.923-92_923-91delinsAG NP_001193861.1:n.923-92_923-91delinsAG
NM_001206936.2:c.913-92_913-91delinsAG NP_001193865.1:n.913-92_913-91delinsAG
NM_001206940.2:c.965-92_965-91delinsAG NP_001193869.1:n.965-92_965-91delinsAG
NM_001206954.2:c.823-92_823-91delinsAG NP_001193883.1:n.823-92_823-91delinsAG
NM_001206966.2:c.965-92_965-91delinsAG NP_001193895.1:n.965-92_965-91delinsAG
NM_172197.3:c.810-92_810-91delinsAG NP_751947.1:n.810-92_810-91delinsAG
NR_038190.2:n.1179-92_1179-91delinsAG
NM_001206929.2:c.1013-92_1013-91delinsAG NP_001193858.1:n.1013-92_1013-91delinsAG
NM_001206934.2:c.1013-92_1013-91delinsAG NP_001193863.1:n.1013-92_1013-91delinsAG