Canonical Allele Identifier: CA2678127472

Gene: AGER

Linked Data

• gnomAD v4: 6-32181778-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181780_32181781del , CM000668.2:g.32181780_32181781del	GRCh38
NC_000006.11:g.32149557_32149558del , CM000668.1:g.32149557_32149558del	GRCh37
NC_000006.10:g.32257535_32257536del	NCBI36
NG_029868.1:g.7543_7544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.965-148_965-147del MANE Select	ENSP00000364217.4:n.965-148_965-147del
ENST00000375055.6:c.965-148_965-147del	ENSP00000364195.2:n.965-148_965-147del
ENST00000375065.6:c.152-148_152-147del	ENSP00000364206.6:n.152-148_152-147del
ENST00000375067.7:c.810-148_810-147del	ENSP00000364208.3:n.810-148_810-147del
ENST00000375069.7:c.1013-148_1013-147del	ENSP00000364210.4:n.1013-148_1013-147del
ENST00000375070.7:c.662-303_662-302del	ENSP00000364211.4:n.662-303_662-302del
ENST00000375076.8:c.965-148_965-147del	ENSP00000364217.4:n.965-148_965-147del
ENST00000438221.6:c.1013-148_1013-147del	ENSP00000387887.2:n.1013-148_1013-147del
ENST00000473619.5:n.507-148_507-147del
ENST00000484849.5:n.1172-148_1172-147del
ENST00000488669.5:n.507-148_507-147del
ENST00000620802.4:c.283-347_283-346del	ENSP00000484081.1:n.283-347_283-346del
NM_001136.4:c.965-148_965-147del	NP_001127.1:n.965-148_965-147del
NM_001206929.1:c.1013-148_1013-147del	NP_001193858.1:n.1013-148_1013-147del
NM_001206932.1:c.923-148_923-147del	NP_001193861.1:n.923-148_923-147del
NM_001206934.1:c.1013-148_1013-147del	NP_001193863.1:n.1013-148_1013-147del
NM_001206936.1:c.913-148_913-147del	NP_001193865.1:n.913-148_913-147del
NM_001206940.1:c.965-148_965-147del	NP_001193869.1:n.965-148_965-147del
NM_001206954.1:c.823-148_823-147del	NP_001193883.1:n.823-148_823-147del
NM_001206966.1:c.965-148_965-147del	NP_001193895.1:n.965-148_965-147del
NM_172197.2:c.810-148_810-147del	NP_751947.1:n.810-148_810-147del
NR_038190.1:n.1248-148_1248-147del
XM_017010328.2:c.964-148_964-147del	XP_016865817.1:n.964-148_964-147del
XR_001743189.2:n.1029-148_1029-147del
XR_001743190.2:n.981-148_981-147del
NM_001136.5:c.965-148_965-147del MANE Select	NP_001127.1:n.965-148_965-147del
NM_001206932.2:c.923-148_923-147del	NP_001193861.1:n.923-148_923-147del
NM_001206936.2:c.913-148_913-147del	NP_001193865.1:n.913-148_913-147del
NM_001206940.2:c.965-148_965-147del	NP_001193869.1:n.965-148_965-147del
NM_001206954.2:c.823-148_823-147del	NP_001193883.1:n.823-148_823-147del
NM_001206966.2:c.965-148_965-147del	NP_001193895.1:n.965-148_965-147del
NM_172197.3:c.810-148_810-147del	NP_751947.1:n.810-148_810-147del
NR_038190.2:n.1179-148_1179-147del
NM_001206929.2:c.1013-148_1013-147del	NP_001193858.1:n.1013-148_1013-147del
NM_001206934.2:c.1013-148_1013-147del	NP_001193863.1:n.1013-148_1013-147del