Canonical Allele Identifier: CA2770520131

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181567_32181576del , CM000668.2:g.32181567_32181576del	GRCh38
NC_000006.11:g.32149344_32149353del , CM000668.1:g.32149344_32149353del	GRCh37
NC_000006.10:g.32257322_32257331del	NCBI36
NG_029868.1:g.7747_7756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+30_991+39del MANE Select	ENSP00000364217.4:n.991+30_991+39del
ENST00000375055.6:c.1021_1030del	ENSP00000364195.2:p.Glu341ProfsTer30
ENST00000375065.6:c.178+30_178+39del	ENSP00000364206.6:n.178+30_178+39del
ENST00000375067.7:c.836+30_836+39del	ENSP00000364208.3:n.836+30_836+39del
ENST00000375069.7:c.1039+30_1039+39del	ENSP00000364210.4:n.1039+30_1039+39del
ENST00000375070.7:c.662-99_662-90del	ENSP00000364211.4:n.662-99_662-90del
ENST00000375076.8:c.991+30_991+39del	ENSP00000364217.4:n.991+30_991+39del
ENST00000438221.6:c.1069_1078del	ENSP00000387887.2:p.Glu357ProfsTer30
ENST00000469940.5:n.60_69del
ENST00000473619.5:n.533+30_533+39del
ENST00000484849.5:n.1198+30_1198+39del
ENST00000488669.5:n.563_572del
ENST00000620802.4:c.283-143_283-134del	ENSP00000484081.1:n.283-143_283-134del
NM_001136.4:c.991+30_991+39del	NP_001127.1:n.991+30_991+39del
NM_001206929.1:c.1039+30_1039+39del	NP_001193858.1:n.1039+30_1039+39del
NM_001206932.1:c.949+30_949+39del	NP_001193861.1:n.949+30_949+39del
NM_001206934.1:c.1069_1078del	NP_001193863.1:p.Glu357ProfsTer30
NM_001206936.1:c.969_978del	NP_001193865.1:p.Gln323HisfsTer?
NM_001206940.1:c.1021_1030del	NP_001193869.1:p.Glu341ProfsTer30
NM_001206954.1:c.879_888del	NP_001193883.1:p.Gln293HisfsTer?
NM_001206966.1:c.1021_1030del	NP_001193895.1:p.Glu341ProfsTer?
NM_172197.2:c.836+30_836+39del	NP_751947.1:n.836+30_836+39del
NR_038190.1:n.1274+30_1274+39del
XM_017010328.2:c.1020_1029del	XP_016865817.1:p.Gln340HisfsTer?
XR_001743189.2:n.1055+30_1055+39del
XR_001743190.2:n.1007+30_1007+39del
NM_001136.5:c.991+30_991+39del MANE Select	NP_001127.1:n.991+30_991+39del
NM_001206932.2:c.949+30_949+39del	NP_001193861.1:n.949+30_949+39del
NM_001206936.2:c.969_978del	NP_001193865.1:p.Gln323HisfsTer?
NM_001206940.2:c.1021_1030del	NP_001193869.1:p.Glu341ProfsTer30
NM_001206954.2:c.879_888del	NP_001193883.1:p.Gln293HisfsTer?
NM_001206966.2:c.1021_1030del	NP_001193895.1:p.Glu341ProfsTer?
NM_172197.3:c.836+30_836+39del	NP_751947.1:n.836+30_836+39del
NR_038190.2:n.1205+30_1205+39del
NM_001206929.2:c.1039+30_1039+39del	NP_001193858.1:n.1039+30_1039+39del
NM_001206934.2:c.1069_1078del	NP_001193863.1:p.Glu357ProfsTer30