Canonical Allele Identifier: CA2678127941
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32182108_32182109insT , CM000668.2:g.32182108_32182109insT GRCh38
NC_000006.11:g.32149885_32149886insT , CM000668.1:g.32149885_32149886insT GRCh37
NC_000006.10:g.32257863_32257864insT NCBI36
NG_029868.1:g.7214_7215insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.964+138_964+139insA MANE Select ENSP00000364217.4:n.964+138_964+139insA
ENST00000375055.6:c.964+138_964+139insA ENSP00000364195.2:n.964+138_964+139insA
ENST00000375065.6:c.151+138_151+139insA ENSP00000364206.6:n.151+138_151+139insA
ENST00000375067.7:c.809+430_809+431insA ENSP00000364208.3:n.809+430_809+431insA
ENST00000375069.7:c.1012+138_1012+139insA ENSP00000364210.4:n.1012+138_1012+139insA
ENST00000375070.7:c.661+138_661+139insA ENSP00000364211.4:n.661+138_661+139insA
ENST00000375076.8:c.964+138_964+139insA ENSP00000364217.4:n.964+138_964+139insA
ENST00000438221.6:c.1012+138_1012+139insA ENSP00000387887.2:n.1012+138_1012+139insA
ENST00000473619.5:n.506+138_506+139insA
ENST00000484849.5:n.1171+138_1171+139insA
ENST00000488669.5:n.506+138_506+139insA
ENST00000620802.4:c.283-676_283-675insA ENSP00000484081.1:n.283-676_283-675insA
NM_001136.4:c.964+138_964+139insA NP_001127.1:n.964+138_964+139insA
NM_001206929.1:c.1012+138_1012+139insA NP_001193858.1:n.1012+138_1012+139insA
NM_001206932.1:c.922+138_922+139insA NP_001193861.1:n.922+138_922+139insA
NM_001206934.1:c.1012+138_1012+139insA NP_001193863.1:n.1012+138_1012+139insA
NM_001206936.1:c.912+138_912+139insA NP_001193865.1:n.912+138_912+139insA
NM_001206940.1:c.964+138_964+139insA NP_001193869.1:n.964+138_964+139insA
NM_001206954.1:c.822+459_822+460insA NP_001193883.1:n.822+459_822+460insA
NM_001206966.1:c.964+138_964+139insA NP_001193895.1:n.964+138_964+139insA
NM_172197.2:c.809+430_809+431insA NP_751947.1:n.809+430_809+431insA
NR_038190.1:n.1247+138_1247+139insA
XM_017010328.2:c.963+459_963+460insA XP_016865817.1:n.963+459_963+460insA
XR_001743189.2:n.1028+459_1028+460insA
XR_001743190.2:n.980+459_980+460insA
NM_001136.5:c.964+138_964+139insA MANE Select NP_001127.1:n.964+138_964+139insA
NM_001206932.2:c.922+138_922+139insA NP_001193861.1:n.922+138_922+139insA
NM_001206936.2:c.912+138_912+139insA NP_001193865.1:n.912+138_912+139insA
NM_001206940.2:c.964+138_964+139insA NP_001193869.1:n.964+138_964+139insA
NM_001206954.2:c.822+459_822+460insA NP_001193883.1:n.822+459_822+460insA
NM_001206966.2:c.964+138_964+139insA NP_001193895.1:n.964+138_964+139insA
NM_172197.3:c.809+430_809+431insA NP_751947.1:n.809+430_809+431insA
NR_038190.2:n.1178+138_1178+139insA
NM_001206929.2:c.1012+138_1012+139insA NP_001193858.1:n.1012+138_1012+139insA
NM_001206934.2:c.1012+138_1012+139insA NP_001193863.1:n.1012+138_1012+139insA