Canonical Allele Identifier: CA1619451251

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181349_32181354delinsACCTCT , CM000668.2:g.32181349_32181354delinsACCTCT	GRCh38
NC_000006.11:g.32149126_32149131delinsACCTCT , CM000668.1:g.32149126_32149131delinsACCTCT	GRCh37
NC_000006.10:g.32257104_32257109delinsACCTCT	NCBI36
NG_029868.1:g.7969_7974delinsAGAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1115_1118+2delinsAGAGGT
ENST00000375055.6:c.*30-115_*30-110delinsAGAGGT	ENSP00000364195.2:n.*30-115_*30-110delinsAGAGGT
ENST00000375065.6:c.302_305+2delinsAGAGGT
ENST00000375067.7:c.960_963+2delinsAGAGGT
ENST00000375069.7:c.1163_1166+2delinsAGAGGT
ENST00000375070.7:c.785_788+2delinsAGAGGT
ENST00000375076.8:c.1115_1118+2delinsAGAGGT
ENST00000438221.6:c.*30-115_*30-110delinsAGAGGT	ENSP00000387887.2:n.*30-115_*30-110delinsAGAGGT
ENST00000469940.5:n.282_285+2delinsAGAGGT
ENST00000473619.5:n.657_660+2delinsAGAGGT
ENST00000484849.5:n.1322_1325+2delinsAGAGGT
ENST00000488669.5:n.616-115_616-110delinsAGAGGT
ENST00000620802.4:c.362_365+2delinsAGAGGT
NM_001136.4:c.1115_1118+2delinsAGAGGT
NM_001206929.1:c.1163_1166+2delinsAGAGGT
NM_001206932.1:c.1073_1076+2delinsAGAGGT
NM_001206934.1:c.*30-115_*30-110delinsAGAGGT	NP_001193863.1:n.*30-115_*30-110delinsAGAGGT
NM_001206936.1:c.1022-115_1022-110delinsAGAGGT	NP_001193865.1:n.1022-115_1022-110delinsAGAGGT
NM_001206940.1:c.*30-115_*30-110delinsAGAGGT	NP_001193869.1:n.*30-115_*30-110delinsAGAGGT
NM_001206954.1:c.932-115_932-110delinsAGAGGT	NP_001193883.1:n.932-115_932-110delinsAGAGGT
NM_001206966.1:c.*29+170_*29+175delinsAGAGGT	NP_001193895.1:n.*29+170_*29+175delinsAGAGGT
NM_172197.2:c.960_963+2delinsAGAGGT
NR_038190.1:n.1398_1401+2delinsAGAGGT
XM_017010328.2:c.1073-115_1073-110delinsAGAGGT	XP_016865817.1:n.1073-115_1073-110delinsAGAGGT
XR_001743189.2:n.1179_1182+2delinsAGAGGT
XR_001743190.2:n.1131_1134+2delinsAGAGGT
NM_001136.5:c.1115_1118+2delinsAGAGGT
NM_001206932.2:c.1073_1076+2delinsAGAGGT
NM_001206936.2:c.1022-115_1022-110delinsAGAGGT	NP_001193865.1:n.1022-115_1022-110delinsAGAGGT
NM_001206940.2:c.*30-115_*30-110delinsAGAGGT	NP_001193869.1:n.*30-115_*30-110delinsAGAGGT
NM_001206954.2:c.932-115_932-110delinsAGAGGT	NP_001193883.1:n.932-115_932-110delinsAGAGGT
NM_001206966.2:c.*29+170_*29+175delinsAGAGGT	NP_001193895.1:n.*29+170_*29+175delinsAGAGGT
NM_172197.3:c.960_963+2delinsAGAGGT
NR_038190.2:n.1329_1332+2delinsAGAGGT
NM_001206929.2:c.1163_1166+2delinsAGAGGT
NM_001206934.2:c.*30-115_*30-110delinsAGAGGT	NP_001193863.1:n.*30-115_*30-110delinsAGAGGT