Canonical Allele Identifier: CA1619451517

Gene: AGER

Linked Data

• dbSNP Id: rs1786257501
• gnomAD v3: 6-32181718-CCTTT-C
• gnomAD v4: 6-32181718-CCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181723_32181726del , CM000668.2:g.32181723_32181726del	GRCh38
NC_000006.11:g.32149500_32149503del , CM000668.1:g.32149500_32149503del	GRCh37
NC_000006.10:g.32257478_32257481del	NCBI36
NG_029868.1:g.7601_7604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.965-90_965-87del MANE Select	ENSP00000364217.4:n.965-90_965-87del
ENST00000375055.6:c.965-90_965-87del	ENSP00000364195.2:n.965-90_965-87del
ENST00000375065.6:c.152-90_152-87del	ENSP00000364206.6:n.152-90_152-87del
ENST00000375067.7:c.810-90_810-87del	ENSP00000364208.3:n.810-90_810-87del
ENST00000375069.7:c.1013-90_1013-87del	ENSP00000364210.4:n.1013-90_1013-87del
ENST00000375070.7:c.662-245_662-242del	ENSP00000364211.4:n.662-245_662-242del
ENST00000375076.8:c.965-90_965-87del	ENSP00000364217.4:n.965-90_965-87del
ENST00000438221.6:c.1013-90_1013-87del	ENSP00000387887.2:n.1013-90_1013-87del
ENST00000473619.5:n.507-90_507-87del
ENST00000484849.5:n.1172-90_1172-87del
ENST00000488669.5:n.507-90_507-87del
ENST00000620802.4:c.283-289_283-286del	ENSP00000484081.1:n.283-289_283-286del
NM_001136.4:c.965-90_965-87del	NP_001127.1:n.965-90_965-87del
NM_001206929.1:c.1013-90_1013-87del	NP_001193858.1:n.1013-90_1013-87del
NM_001206932.1:c.923-90_923-87del	NP_001193861.1:n.923-90_923-87del
NM_001206934.1:c.1013-90_1013-87del	NP_001193863.1:n.1013-90_1013-87del
NM_001206936.1:c.913-90_913-87del	NP_001193865.1:n.913-90_913-87del
NM_001206940.1:c.965-90_965-87del	NP_001193869.1:n.965-90_965-87del
NM_001206954.1:c.823-90_823-87del	NP_001193883.1:n.823-90_823-87del
NM_001206966.1:c.965-90_965-87del	NP_001193895.1:n.965-90_965-87del
NM_172197.2:c.810-90_810-87del	NP_751947.1:n.810-90_810-87del
NR_038190.1:n.1248-90_1248-87del
XM_017010328.2:c.964-90_964-87del	XP_016865817.1:n.964-90_964-87del
XR_001743189.2:n.1029-90_1029-87del
XR_001743190.2:n.981-90_981-87del
NM_001136.5:c.965-90_965-87del MANE Select	NP_001127.1:n.965-90_965-87del
NM_001206932.2:c.923-90_923-87del	NP_001193861.1:n.923-90_923-87del
NM_001206936.2:c.913-90_913-87del	NP_001193865.1:n.913-90_913-87del
NM_001206940.2:c.965-90_965-87del	NP_001193869.1:n.965-90_965-87del
NM_001206954.2:c.823-90_823-87del	NP_001193883.1:n.823-90_823-87del
NM_001206966.2:c.965-90_965-87del	NP_001193895.1:n.965-90_965-87del
NM_172197.3:c.810-90_810-87del	NP_751947.1:n.810-90_810-87del
NR_038190.2:n.1179-90_1179-87del
NM_001206929.2:c.1013-90_1013-87del	NP_001193858.1:n.1013-90_1013-87del
NM_001206934.2:c.1013-90_1013-87del	NP_001193863.1:n.1013-90_1013-87del