Canonical Allele Identifier: CA2678126698

Gene: AGER

Linked Data

• gnomAD v4: 6-32181349-A-ACCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181359_32181363dup , CM000668.2:g.32181359_32181363dup	GRCh38
NC_000006.11:g.32149136_32149140dup , CM000668.1:g.32149136_32149140dup	GRCh37
NC_000006.10:g.32257114_32257118dup	NCBI36
NG_029868.1:g.7969_7973dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1115_1118+1dup
ENST00000375055.6:c.*30-115_*30-111dup	ENSP00000364195.2:n.*30-115_*30-111dup
ENST00000375065.6:c.302_305+1dup
ENST00000375067.7:c.960_963+1dup
ENST00000375069.7:c.1163_1166+1dup
ENST00000375070.7:c.785_788+1dup
ENST00000375076.8:c.1115_1118+1dup
ENST00000438221.6:c.*30-115_*30-111dup	ENSP00000387887.2:n.*30-115_*30-111dup
ENST00000469940.5:n.282_285+1dup
ENST00000473619.5:n.657_660+1dup
ENST00000484849.5:n.1322_1325+1dup
ENST00000488669.5:n.616-115_616-111dup
ENST00000620802.4:c.362_365+1dup
NM_001136.4:c.1115_1118+1dup
NM_001206929.1:c.1163_1166+1dup
NM_001206932.1:c.1073_1076+1dup
NM_001206934.1:c.*30-115_*30-111dup	NP_001193863.1:n.*30-115_*30-111dup
NM_001206936.1:c.1022-115_1022-111dup	NP_001193865.1:n.1022-115_1022-111dup
NM_001206940.1:c.*30-115_*30-111dup	NP_001193869.1:n.*30-115_*30-111dup
NM_001206954.1:c.932-115_932-111dup	NP_001193883.1:n.932-115_932-111dup
NM_001206966.1:c.*29+170_*29+174dup	NP_001193895.1:n.*29+170_*29+174dup
NM_172197.2:c.960_963+1dup
NR_038190.1:n.1398_1401+1dup
XM_017010328.2:c.1073-115_1073-111dup	XP_016865817.1:n.1073-115_1073-111dup
XR_001743189.2:n.1179_1182+1dup
XR_001743190.2:n.1131_1134+1dup
NM_001136.5:c.1115_1118+1dup
NM_001206932.2:c.1073_1076+1dup
NM_001206936.2:c.1022-115_1022-111dup	NP_001193865.1:n.1022-115_1022-111dup
NM_001206940.2:c.*30-115_*30-111dup	NP_001193869.1:n.*30-115_*30-111dup
NM_001206954.2:c.932-115_932-111dup	NP_001193883.1:n.932-115_932-111dup
NM_001206966.2:c.*29+170_*29+174dup	NP_001193895.1:n.*29+170_*29+174dup
NM_172197.3:c.960_963+1dup
NR_038190.2:n.1329_1332+1dup
NM_001206929.2:c.1163_1166+1dup
NM_001206934.2:c.*30-115_*30-111dup	NP_001193863.1:n.*30-115_*30-111dup