Canonical Allele Identifier: CA2770520122

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181405del , CM000668.2:g.32181405del	GRCh38
NC_000006.11:g.32149182del , CM000668.1:g.32149182del	GRCh37
NC_000006.10:g.32257160del	NCBI36
NG_029868.1:g.7920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1066del MANE Select	ENSP00000364217.4:p.Leu356CysfsTer?
ENST00000375055.6:c.*29+121del	ENSP00000364195.2:n.*29+121del
ENST00000375065.6:c.253del	ENSP00000364206.6:p.Leu85CysfsTer?
ENST00000375067.7:c.911del	ENSP00000364208.3:p.Pro304LeufsTer?
ENST00000375069.7:c.1114del	ENSP00000364210.4:p.Leu372CysfsTer?
ENST00000375070.7:c.736del	ENSP00000364211.4:p.Leu246CysfsTer?
ENST00000375076.8:c.1066del	ENSP00000364217.4:p.Leu356CysfsTer?
ENST00000438221.6:c.*29+121del	ENSP00000387887.2:n.*29+121del
ENST00000469940.5:n.233del
ENST00000473619.5:n.608del
ENST00000484849.5:n.1273del
ENST00000488669.5:n.615+121del
ENST00000620802.4:c.313del	ENSP00000484081.1:p.Leu105CysfsTer?
NM_001136.4:c.1066del	NP_001127.1:p.Leu356CysfsTer?
NM_001206929.1:c.1114del	NP_001193858.1:p.Leu372CysfsTer?
NM_001206932.1:c.1024del	NP_001193861.1:p.Leu342CysfsTer?
NM_001206934.1:c.*29+121del	NP_001193863.1:n.*29+121del
NM_001206936.1:c.1021+121del	NP_001193865.1:n.1021+121del
NM_001206940.1:c.*29+121del	NP_001193869.1:n.*29+121del
NM_001206954.1:c.931+121del	NP_001193883.1:n.931+121del
NM_001206966.1:c.*29+121del	NP_001193895.1:n.*29+121del
NM_172197.2:c.911del	NP_751947.1:p.Pro304LeufsTer?
NR_038190.1:n.1349del
XM_017010328.2:c.1072+121del	XP_016865817.1:n.1072+121del
XR_001743189.2:n.1130del
XR_001743190.2:n.1082del
NM_001136.5:c.1066del MANE Select	NP_001127.1:p.Leu356CysfsTer?
NM_001206932.2:c.1024del	NP_001193861.1:p.Leu342CysfsTer?
NM_001206936.2:c.1021+121del	NP_001193865.1:n.1021+121del
NM_001206940.2:c.*29+121del	NP_001193869.1:n.*29+121del
NM_001206954.2:c.931+121del	NP_001193883.1:n.931+121del
NM_001206966.2:c.*29+121del	NP_001193895.1:n.*29+121del
NM_172197.3:c.911del	NP_751947.1:p.Pro304LeufsTer?
NR_038190.2:n.1280del
NM_001206929.2:c.1114del	NP_001193858.1:p.Leu372CysfsTer?
NM_001206934.2:c.*29+121del	NP_001193863.1:n.*29+121del