Canonical Allele Identifier: CA1087507357

Gene: AGER

Linked Data

• gnomAD v3: 6-32181734-TGAGATGGAGTTTCAC-T
• gnomAD v4: 6-32181734-TGAGATGGAGTTTCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181735_32181749del , CM000668.2:g.32181735_32181749del	GRCh38
NC_000006.11:g.32149512_32149526del , CM000668.1:g.32149512_32149526del	GRCh37
NC_000006.10:g.32257490_32257504del	NCBI36
NG_029868.1:g.7574_7588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.965-117_965-103del MANE Select	ENSP00000364217.4:n.965-117_965-103del
ENST00000375055.6:c.965-117_965-103del	ENSP00000364195.2:n.965-117_965-103del
ENST00000375065.6:c.152-117_152-103del	ENSP00000364206.6:n.152-117_152-103del
ENST00000375067.7:c.810-117_810-103del	ENSP00000364208.3:n.810-117_810-103del
ENST00000375069.7:c.1013-117_1013-103del	ENSP00000364210.4:n.1013-117_1013-103del
ENST00000375070.7:c.662-272_662-258del	ENSP00000364211.4:n.662-272_662-258del
ENST00000375076.8:c.965-117_965-103del	ENSP00000364217.4:n.965-117_965-103del
ENST00000438221.6:c.1013-117_1013-103del	ENSP00000387887.2:n.1013-117_1013-103del
ENST00000473619.5:n.507-117_507-103del
ENST00000484849.5:n.1172-117_1172-103del
ENST00000488669.5:n.507-117_507-103del
ENST00000620802.4:c.283-316_283-302del	ENSP00000484081.1:n.283-316_283-302del
NM_001136.4:c.965-117_965-103del	NP_001127.1:n.965-117_965-103del
NM_001206929.1:c.1013-117_1013-103del	NP_001193858.1:n.1013-117_1013-103del
NM_001206932.1:c.923-117_923-103del	NP_001193861.1:n.923-117_923-103del
NM_001206934.1:c.1013-117_1013-103del	NP_001193863.1:n.1013-117_1013-103del
NM_001206936.1:c.913-117_913-103del	NP_001193865.1:n.913-117_913-103del
NM_001206940.1:c.965-117_965-103del	NP_001193869.1:n.965-117_965-103del
NM_001206954.1:c.823-117_823-103del	NP_001193883.1:n.823-117_823-103del
NM_001206966.1:c.965-117_965-103del	NP_001193895.1:n.965-117_965-103del
NM_172197.2:c.810-117_810-103del	NP_751947.1:n.810-117_810-103del
NR_038190.1:n.1248-117_1248-103del
XM_017010328.2:c.964-117_964-103del	XP_016865817.1:n.964-117_964-103del
XR_001743189.2:n.1029-117_1029-103del
XR_001743190.2:n.981-117_981-103del
NM_001136.5:c.965-117_965-103del MANE Select	NP_001127.1:n.965-117_965-103del
NM_001206932.2:c.923-117_923-103del	NP_001193861.1:n.923-117_923-103del
NM_001206936.2:c.913-117_913-103del	NP_001193865.1:n.913-117_913-103del
NM_001206940.2:c.965-117_965-103del	NP_001193869.1:n.965-117_965-103del
NM_001206954.2:c.823-117_823-103del	NP_001193883.1:n.823-117_823-103del
NM_001206966.2:c.965-117_965-103del	NP_001193895.1:n.965-117_965-103del
NM_172197.3:c.810-117_810-103del	NP_751947.1:n.810-117_810-103del
NR_038190.2:n.1179-117_1179-103del
NM_001206929.2:c.1013-117_1013-103del	NP_001193858.1:n.1013-117_1013-103del
NM_001206934.2:c.1013-117_1013-103del	NP_001193863.1:n.1013-117_1013-103del