Canonical Allele Identifier: CA2841643388
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32183434_32183435del , CM000668.2:g.32183434_32183435del GRCh38
NC_000006.11:g.32151211_32151212del , CM000668.1:g.32151211_32151212del GRCh37
NC_000006.10:g.32259189_32259190del NCBI36
NG_029868.1:g.5890_5891del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.356-45_356-44del MANE Select ENSP00000364217.4:n.356-45_356-44del
ENST00000375055.6:c.356-45_356-44del ENSP00000364195.2:n.356-45_356-44del
ENST00000375056.6:c.356-45_356-44del ENSP00000364196.2:n.356-45_356-44del
ENST00000375065.6:c.-182+525_-182+526del ENSP00000364206.6:n.-182+525_-182+526del
ENST00000375067.7:c.314-45_314-44del ENSP00000364208.3:n.314-45_314-44del
ENST00000375069.7:c.356-45_356-44del ENSP00000364210.4:n.356-45_356-44del
ENST00000375070.7:c.53-45_53-44del ENSP00000364211.4:n.53-45_53-44del
ENST00000375076.8:c.356-45_356-44del ENSP00000364217.4:n.356-45_356-44del
ENST00000438221.6:c.356-45_356-44del ENSP00000387887.2:n.356-45_356-44del
ENST00000450110.5:c.350_351del ENSP00000398466.1:p.Arg117AsnfsTer8
ENST00000484849.5:n.563-45_563-44del
ENST00000538695.2:c.363_364del ENSP00000445389.1:p.Asn122ProfsTer?
ENST00000620802.4:c.282+195_282+196del ENSP00000484081.1:n.282+195_282+196del
NM_001136.4:c.356-45_356-44del NP_001127.1:n.356-45_356-44del
NM_001206929.1:c.356-45_356-44del NP_001193858.1:n.356-45_356-44del
NM_001206932.1:c.314-45_314-44del NP_001193861.1:n.314-45_314-44del
NM_001206934.1:c.356-45_356-44del NP_001193863.1:n.356-45_356-44del
NM_001206936.1:c.356-45_356-44del NP_001193865.1:n.356-45_356-44del
NM_001206940.1:c.356-45_356-44del NP_001193869.1:n.356-45_356-44del
NM_001206954.1:c.356-45_356-44del NP_001193883.1:n.356-45_356-44del
NM_001206966.1:c.356-45_356-44del NP_001193895.1:n.356-45_356-44del
NM_172197.2:c.314-45_314-44del NP_751947.1:n.314-45_314-44del
NR_038190.1:n.639-45_639-44del
XM_017010328.2:c.449-45_449-44del XP_016865817.1:n.449-45_449-44del
XR_001743189.2:n.514-45_514-44del
XR_001743190.2:n.514-45_514-44del
NM_001136.5:c.356-45_356-44del MANE Select NP_001127.1:n.356-45_356-44del
NM_001206932.2:c.314-45_314-44del NP_001193861.1:n.314-45_314-44del
NM_001206936.2:c.356-45_356-44del NP_001193865.1:n.356-45_356-44del
NM_001206940.2:c.356-45_356-44del NP_001193869.1:n.356-45_356-44del
NM_001206954.2:c.356-45_356-44del NP_001193883.1:n.356-45_356-44del
NM_001206966.2:c.356-45_356-44del NP_001193895.1:n.356-45_356-44del
NM_172197.3:c.314-45_314-44del NP_751947.1:n.314-45_314-44del
NR_038190.2:n.570-45_570-44del
NM_001206929.2:c.356-45_356-44del NP_001193858.1:n.356-45_356-44del
NM_001206934.2:c.356-45_356-44del NP_001193863.1:n.356-45_356-44del