Canonical Allele Identifier: CA2770520132

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181579_32181584del , CM000668.2:g.32181579_32181584del	GRCh38
NC_000006.11:g.32149356_32149361del , CM000668.1:g.32149356_32149361del	GRCh37
NC_000006.10:g.32257334_32257339del	NCBI36
NG_029868.1:g.7739_7744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+22_991+27del MANE Select	ENSP00000364217.4:n.991+22_991+27del
ENST00000375055.6:c.1013_1018del	ENSP00000364195.2:p.Arg338_Ala340delinsThr
ENST00000375065.6:c.178+22_178+27del	ENSP00000364206.6:n.178+22_178+27del
ENST00000375067.7:c.836+22_836+27del	ENSP00000364208.3:n.836+22_836+27del
ENST00000375069.7:c.1039+22_1039+27del	ENSP00000364210.4:n.1039+22_1039+27del
ENST00000375070.7:c.662-107_662-102del	ENSP00000364211.4:n.662-107_662-102del
ENST00000375076.8:c.991+22_991+27del	ENSP00000364217.4:n.991+22_991+27del
ENST00000438221.6:c.1061_1066del	ENSP00000387887.2:p.Arg354_Ala356delinsThr
ENST00000469940.5:n.52_57del
ENST00000473619.5:n.533+22_533+27del
ENST00000484849.5:n.1198+22_1198+27del
ENST00000488669.5:n.555_560del
ENST00000620802.4:c.283-151_283-146del	ENSP00000484081.1:n.283-151_283-146del
NM_001136.4:c.991+22_991+27del	NP_001127.1:n.991+22_991+27del
NM_001206929.1:c.1039+22_1039+27del	NP_001193858.1:n.1039+22_1039+27del
NM_001206932.1:c.949+22_949+27del	NP_001193861.1:n.949+22_949+27del
NM_001206934.1:c.1061_1066del	NP_001193863.1:p.Arg354_Ala356delinsThr
NM_001206936.1:c.961_966del	NP_001193865.1:p.Gly321_Lys322del
NM_001206940.1:c.1013_1018del	NP_001193869.1:p.Arg338_Ala340delinsThr
NM_001206954.1:c.871_876del	NP_001193883.1:p.Gly291_Lys292del
NM_001206966.1:c.1013_1018del	NP_001193895.1:p.Arg338_Ala340delinsThr
NM_172197.2:c.836+22_836+27del	NP_751947.1:n.836+22_836+27del
NR_038190.1:n.1274+22_1274+27del
XM_017010328.2:c.1012_1017del	XP_016865817.1:p.Gly338_Lys339del
XR_001743189.2:n.1055+22_1055+27del
XR_001743190.2:n.1007+22_1007+27del
NM_001136.5:c.991+22_991+27del MANE Select	NP_001127.1:n.991+22_991+27del
NM_001206932.2:c.949+22_949+27del	NP_001193861.1:n.949+22_949+27del
NM_001206936.2:c.961_966del	NP_001193865.1:p.Gly321_Lys322del
NM_001206940.2:c.1013_1018del	NP_001193869.1:p.Arg338_Ala340delinsThr
NM_001206954.2:c.871_876del	NP_001193883.1:p.Gly291_Lys292del
NM_001206966.2:c.1013_1018del	NP_001193895.1:p.Arg338_Ala340delinsThr
NM_172197.3:c.836+22_836+27del	NP_751947.1:n.836+22_836+27del
NR_038190.2:n.1205+22_1205+27del
NM_001206929.2:c.1039+22_1039+27del	NP_001193858.1:n.1039+22_1039+27del
NM_001206934.2:c.1061_1066del	NP_001193863.1:p.Arg354_Ala356delinsThr