Canonical Allele Identifier: CA2770520138
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181650_32181662del , CM000668.2:g.32181650_32181662del GRCh38
NC_000006.11:g.32149427_32149439del , CM000668.1:g.32149427_32149439del GRCh37
NC_000006.10:g.32257405_32257417del NCBI36
NG_029868.1:g.7661_7673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.965-30_965-18del MANE Select ENSP00000364217.4:n.965-30_965-18del
ENST00000375055.6:c.965-30_965-18del ENSP00000364195.2:n.965-30_965-18del
ENST00000375065.6:c.152-30_152-18del ENSP00000364206.6:n.152-30_152-18del
ENST00000375067.7:c.810-30_810-18del ENSP00000364208.3:n.810-30_810-18del
ENST00000375069.7:c.1013-30_1013-18del ENSP00000364210.4:n.1013-30_1013-18del
ENST00000375070.7:c.662-185_662-173del ENSP00000364211.4:n.662-185_662-173del
ENST00000375076.8:c.965-30_965-18del ENSP00000364217.4:n.965-30_965-18del
ENST00000438221.6:c.1013-30_1013-18del ENSP00000387887.2:n.1013-30_1013-18del
ENST00000473619.5:n.507-30_507-18del
ENST00000484849.5:n.1172-30_1172-18del
ENST00000488669.5:n.507-30_507-18del
ENST00000620802.4:c.283-229_283-217del ENSP00000484081.1:n.283-229_283-217del
NM_001136.4:c.965-30_965-18del NP_001127.1:n.965-30_965-18del
NM_001206929.1:c.1013-30_1013-18del NP_001193858.1:n.1013-30_1013-18del
NM_001206932.1:c.923-30_923-18del NP_001193861.1:n.923-30_923-18del
NM_001206934.1:c.1013-30_1013-18del NP_001193863.1:n.1013-30_1013-18del
NM_001206936.1:c.913-30_913-18del NP_001193865.1:n.913-30_913-18del
NM_001206940.1:c.965-30_965-18del NP_001193869.1:n.965-30_965-18del
NM_001206954.1:c.823-30_823-18del NP_001193883.1:n.823-30_823-18del
NM_001206966.1:c.965-30_965-18del NP_001193895.1:n.965-30_965-18del
NM_172197.2:c.810-30_810-18del NP_751947.1:n.810-30_810-18del
NR_038190.1:n.1248-30_1248-18del
XM_017010328.2:c.964-30_964-18del XP_016865817.1:n.964-30_964-18del
XR_001743189.2:n.1029-30_1029-18del
XR_001743190.2:n.981-30_981-18del
NM_001136.5:c.965-30_965-18del MANE Select NP_001127.1:n.965-30_965-18del
NM_001206932.2:c.923-30_923-18del NP_001193861.1:n.923-30_923-18del
NM_001206936.2:c.913-30_913-18del NP_001193865.1:n.913-30_913-18del
NM_001206940.2:c.965-30_965-18del NP_001193869.1:n.965-30_965-18del
NM_001206954.2:c.823-30_823-18del NP_001193883.1:n.823-30_823-18del
NM_001206966.2:c.965-30_965-18del NP_001193895.1:n.965-30_965-18del
NM_172197.3:c.810-30_810-18del NP_751947.1:n.810-30_810-18del
NR_038190.2:n.1179-30_1179-18del
NM_001206929.2:c.1013-30_1013-18del NP_001193858.1:n.1013-30_1013-18del
NM_001206934.2:c.1013-30_1013-18del NP_001193863.1:n.1013-30_1013-18del