Canonical Allele Identifier: CA1619451499

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181683_32181684delinsAG , CM000668.2:g.32181683_32181684delinsAG	GRCh38
NC_000006.11:g.32149460_32149461delinsAG , CM000668.1:g.32149460_32149461delinsAG	GRCh37
NC_000006.10:g.32257438_32257439delinsAG	NCBI36
NG_029868.1:g.7639_7640delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.965-52_965-51delinsCT MANE Select	ENSP00000364217.4:n.965-52_965-51delinsCT
ENST00000375055.6:c.965-52_965-51delinsCT	ENSP00000364195.2:n.965-52_965-51delinsCT
ENST00000375065.6:c.152-52_152-51delinsCT	ENSP00000364206.6:n.152-52_152-51delinsCT
ENST00000375067.7:c.810-52_810-51delinsCT	ENSP00000364208.3:n.810-52_810-51delinsCT
ENST00000375069.7:c.1013-52_1013-51delinsCT	ENSP00000364210.4:n.1013-52_1013-51delinsCT
ENST00000375070.7:c.662-207_662-206delinsCT	ENSP00000364211.4:n.662-207_662-206delinsCT
ENST00000375076.8:c.965-52_965-51delinsCT	ENSP00000364217.4:n.965-52_965-51delinsCT
ENST00000438221.6:c.1013-52_1013-51delinsCT	ENSP00000387887.2:n.1013-52_1013-51delinsCT
ENST00000473619.5:n.507-52_507-51delinsCT
ENST00000484849.5:n.1172-52_1172-51delinsCT
ENST00000488669.5:n.507-52_507-51delinsCT
ENST00000620802.4:c.283-251_283-250delinsCT	ENSP00000484081.1:n.283-251_283-250delinsCT
NM_001136.4:c.965-52_965-51delinsCT	NP_001127.1:n.965-52_965-51delinsCT
NM_001206929.1:c.1013-52_1013-51delinsCT	NP_001193858.1:n.1013-52_1013-51delinsCT
NM_001206932.1:c.923-52_923-51delinsCT	NP_001193861.1:n.923-52_923-51delinsCT
NM_001206934.1:c.1013-52_1013-51delinsCT	NP_001193863.1:n.1013-52_1013-51delinsCT
NM_001206936.1:c.913-52_913-51delinsCT	NP_001193865.1:n.913-52_913-51delinsCT
NM_001206940.1:c.965-52_965-51delinsCT	NP_001193869.1:n.965-52_965-51delinsCT
NM_001206954.1:c.823-52_823-51delinsCT	NP_001193883.1:n.823-52_823-51delinsCT
NM_001206966.1:c.965-52_965-51delinsCT	NP_001193895.1:n.965-52_965-51delinsCT
NM_172197.2:c.810-52_810-51delinsCT	NP_751947.1:n.810-52_810-51delinsCT
NR_038190.1:n.1248-52_1248-51delinsCT
XM_017010328.2:c.964-52_964-51delinsCT	XP_016865817.1:n.964-52_964-51delinsCT
XR_001743189.2:n.1029-52_1029-51delinsCT
XR_001743190.2:n.981-52_981-51delinsCT
NM_001136.5:c.965-52_965-51delinsCT MANE Select	NP_001127.1:n.965-52_965-51delinsCT
NM_001206932.2:c.923-52_923-51delinsCT	NP_001193861.1:n.923-52_923-51delinsCT
NM_001206936.2:c.913-52_913-51delinsCT	NP_001193865.1:n.913-52_913-51delinsCT
NM_001206940.2:c.965-52_965-51delinsCT	NP_001193869.1:n.965-52_965-51delinsCT
NM_001206954.2:c.823-52_823-51delinsCT	NP_001193883.1:n.823-52_823-51delinsCT
NM_001206966.2:c.965-52_965-51delinsCT	NP_001193895.1:n.965-52_965-51delinsCT
NM_172197.3:c.810-52_810-51delinsCT	NP_751947.1:n.810-52_810-51delinsCT
NR_038190.2:n.1179-52_1179-51delinsCT
NM_001206929.2:c.1013-52_1013-51delinsCT	NP_001193858.1:n.1013-52_1013-51delinsCT
NM_001206934.2:c.1013-52_1013-51delinsCT	NP_001193863.1:n.1013-52_1013-51delinsCT