Canonical Allele Identifier: CA1619451887

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182279_32182280delinsTG , CM000668.2:g.32182279_32182280delinsTG	GRCh38
NC_000006.11:g.32150056_32150057delinsTG , CM000668.1:g.32150056_32150057delinsTG	GRCh37
NC_000006.10:g.32258034_32258035delinsTG	NCBI36
NG_029868.1:g.7043_7044delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.931_932delinsCA MANE Select	ENSP00000364217.4:p.Gln311=
ENST00000375055.6:c.931_932delinsCA	ENSP00000364195.2:p.Gln311=
ENST00000375065.6:c.118_119delinsCA	ENSP00000364206.6:p.Gln40=
ENST00000375067.7:c.809+259_809+260delinsCA	ENSP00000364208.3:n.809+259_809+260delinsCA
ENST00000375069.7:c.979_980delinsCA	ENSP00000364210.4:p.Gln327=
ENST00000375070.7:c.628_629delinsCA	ENSP00000364211.4:p.Gln210=
ENST00000375076.8:c.931_932delinsCA	ENSP00000364217.4:p.Gln311=
ENST00000438221.6:c.979_980delinsCA	ENSP00000387887.2:p.Gln327=
ENST00000473619.5:n.473_474delinsCA
ENST00000484849.5:n.1138_1139delinsCA
ENST00000488669.5:n.473_474delinsCA
ENST00000620802.4:c.283-847_283-846delinsCA	ENSP00000484081.1:n.283-847_283-846delinsCA
NM_001136.4:c.931_932delinsCA	NP_001127.1:p.Gln311=
NM_001206929.1:c.979_980delinsCA	NP_001193858.1:p.Gln327=
NM_001206932.1:c.889_890delinsCA	NP_001193861.1:p.Gln297=
NM_001206934.1:c.979_980delinsCA	NP_001193863.1:p.Gln327=
NM_001206936.1:c.879_880delinsCA	NP_001193865.1:p.Pro293=
NM_001206940.1:c.931_932delinsCA	NP_001193869.1:p.Gln311=
NM_001206954.1:c.822+288_822+289delinsCA	NP_001193883.1:n.822+288_822+289delinsCA
NM_001206966.1:c.931_932delinsCA	NP_001193895.1:p.Gln311=
NM_172197.2:c.809+259_809+260delinsCA	NP_751947.1:n.809+259_809+260delinsCA
NR_038190.1:n.1214_1215delinsCA
XM_017010328.2:c.963+288_963+289delinsCA	XP_016865817.1:n.963+288_963+289delinsCA
XR_001743189.2:n.1028+288_1028+289delinsCA
XR_001743190.2:n.980+288_980+289delinsCA
NM_001136.5:c.931_932delinsCA MANE Select	NP_001127.1:p.Gln311=
NM_001206932.2:c.889_890delinsCA	NP_001193861.1:p.Gln297=
NM_001206936.2:c.879_880delinsCA	NP_001193865.1:p.Pro293=
NM_001206940.2:c.931_932delinsCA	NP_001193869.1:p.Gln311=
NM_001206954.2:c.822+288_822+289delinsCA	NP_001193883.1:n.822+288_822+289delinsCA
NM_001206966.2:c.931_932delinsCA	NP_001193895.1:p.Gln311=
NM_172197.3:c.809+259_809+260delinsCA	NP_751947.1:n.809+259_809+260delinsCA
NR_038190.2:n.1145_1146delinsCA
NM_001206929.2:c.979_980delinsCA	NP_001193858.1:p.Gln327=
NM_001206934.2:c.979_980delinsCA	NP_001193863.1:p.Gln327=