Canonical Allele Identifier: CA1619451516
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181718_32181722delinsCCTTT , CM000668.2:g.32181718_32181722delinsCCTTT GRCh38
NC_000006.11:g.32149495_32149499delinsCCTTT , CM000668.1:g.32149495_32149499delinsCCTTT GRCh37
NC_000006.10:g.32257473_32257477delinsCCTTT NCBI36
NG_029868.1:g.7601_7605delinsAAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.965-90_965-86delinsAAAGG MANE Select ENSP00000364217.4:n.965-90_965-86delinsAAAGG
ENST00000375055.6:c.965-90_965-86delinsAAAGG ENSP00000364195.2:n.965-90_965-86delinsAAAGG
ENST00000375065.6:c.152-90_152-86delinsAAAGG ENSP00000364206.6:n.152-90_152-86delinsAAAGG
ENST00000375067.7:c.810-90_810-86delinsAAAGG ENSP00000364208.3:n.810-90_810-86delinsAAAGG
ENST00000375069.7:c.1013-90_1013-86delinsAAAGG ENSP00000364210.4:n.1013-90_1013-86delinsAAAGG
ENST00000375070.7:c.662-245_662-241delinsAAAGG ENSP00000364211.4:n.662-245_662-241delinsAAAGG
ENST00000375076.8:c.965-90_965-86delinsAAAGG ENSP00000364217.4:n.965-90_965-86delinsAAAGG
ENST00000438221.6:c.1013-90_1013-86delinsAAAGG ENSP00000387887.2:n.1013-90_1013-86delinsAAAGG
ENST00000473619.5:n.507-90_507-86delinsAAAGG
ENST00000484849.5:n.1172-90_1172-86delinsAAAGG
ENST00000488669.5:n.507-90_507-86delinsAAAGG
ENST00000620802.4:c.283-289_283-285delinsAAAGG ENSP00000484081.1:n.283-289_283-285delinsAAAGG
NM_001136.4:c.965-90_965-86delinsAAAGG NP_001127.1:n.965-90_965-86delinsAAAGG
NM_001206929.1:c.1013-90_1013-86delinsAAAGG NP_001193858.1:n.1013-90_1013-86delinsAAAGG
NM_001206932.1:c.923-90_923-86delinsAAAGG NP_001193861.1:n.923-90_923-86delinsAAAGG
NM_001206934.1:c.1013-90_1013-86delinsAAAGG NP_001193863.1:n.1013-90_1013-86delinsAAAGG
NM_001206936.1:c.913-90_913-86delinsAAAGG NP_001193865.1:n.913-90_913-86delinsAAAGG
NM_001206940.1:c.965-90_965-86delinsAAAGG NP_001193869.1:n.965-90_965-86delinsAAAGG
NM_001206954.1:c.823-90_823-86delinsAAAGG NP_001193883.1:n.823-90_823-86delinsAAAGG
NM_001206966.1:c.965-90_965-86delinsAAAGG NP_001193895.1:n.965-90_965-86delinsAAAGG
NM_172197.2:c.810-90_810-86delinsAAAGG NP_751947.1:n.810-90_810-86delinsAAAGG
NR_038190.1:n.1248-90_1248-86delinsAAAGG
XM_017010328.2:c.964-90_964-86delinsAAAGG XP_016865817.1:n.964-90_964-86delinsAAAGG
XR_001743189.2:n.1029-90_1029-86delinsAAAGG
XR_001743190.2:n.981-90_981-86delinsAAAGG
NM_001136.5:c.965-90_965-86delinsAAAGG MANE Select NP_001127.1:n.965-90_965-86delinsAAAGG
NM_001206932.2:c.923-90_923-86delinsAAAGG NP_001193861.1:n.923-90_923-86delinsAAAGG
NM_001206936.2:c.913-90_913-86delinsAAAGG NP_001193865.1:n.913-90_913-86delinsAAAGG
NM_001206940.2:c.965-90_965-86delinsAAAGG NP_001193869.1:n.965-90_965-86delinsAAAGG
NM_001206954.2:c.823-90_823-86delinsAAAGG NP_001193883.1:n.823-90_823-86delinsAAAGG
NM_001206966.2:c.965-90_965-86delinsAAAGG NP_001193895.1:n.965-90_965-86delinsAAAGG
NM_172197.3:c.810-90_810-86delinsAAAGG NP_751947.1:n.810-90_810-86delinsAAAGG
NR_038190.2:n.1179-90_1179-86delinsAAAGG
NM_001206929.2:c.1013-90_1013-86delinsAAAGG NP_001193858.1:n.1013-90_1013-86delinsAAAGG
NM_001206934.2:c.1013-90_1013-86delinsAAAGG NP_001193863.1:n.1013-90_1013-86delinsAAAGG