Canonical Allele Identifier: CA1619451325
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181440_32181448delinsCAGGGCTAG , CM000668.2:g.32181440_32181448delinsCAGGGCTAG GRCh38
NC_000006.11:g.32149217_32149225delinsCAGGGCTAG , CM000668.1:g.32149217_32149225delinsCAGGGCTAG GRCh37
NC_000006.10:g.32257195_32257203delinsCAGGGCTAG NCBI36
NG_029868.1:g.7875_7883delinsCTAGCCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1021_1029delinsCTAGCCCTG MANE Select ENSP00000364217.4:p.Leu341=
ENST00000375055.6:c.*29+76_*29+84delinsCTAGCCCTG ENSP00000364195.2:n.*29+76_*29+84delinsCTAGCCCTG
ENST00000375065.6:c.208_216delinsCTAGCCCTG ENSP00000364206.6:p.Leu70=
ENST00000375067.7:c.866_874delinsCTAGCCCTG ENSP00000364208.3:p.Ser289=
ENST00000375069.7:c.1069_1077delinsCTAGCCCTG ENSP00000364210.4:p.Leu357=
ENST00000375070.7:c.691_699delinsCTAGCCCTG ENSP00000364211.4:p.Leu231=
ENST00000375076.8:c.1021_1029delinsCTAGCCCTG ENSP00000364217.4:p.Leu341=
ENST00000438221.6:c.*29+76_*29+84delinsCTAGCCCTG ENSP00000387887.2:n.*29+76_*29+84delinsCTAGCCCTG
ENST00000469940.5:n.188_196delinsCTAGCCCTG
ENST00000473619.5:n.563_571delinsCTAGCCCTG
ENST00000484849.5:n.1228_1236delinsCTAGCCCTG
ENST00000488669.5:n.615+76_615+84delinsCTAGCCCTG
ENST00000620802.4:c.283-15_283-7delinsCTAGCCCTG ENSP00000484081.1:n.283-15_283-7delinsCTAGCCCTG
NM_001136.4:c.1021_1029delinsCTAGCCCTG NP_001127.1:p.Leu341=
NM_001206929.1:c.1069_1077delinsCTAGCCCTG NP_001193858.1:p.Leu357=
NM_001206932.1:c.979_987delinsCTAGCCCTG NP_001193861.1:p.Leu327=
NM_001206934.1:c.*29+76_*29+84delinsCTAGCCCTG NP_001193863.1:n.*29+76_*29+84delinsCTAGCCCTG
NM_001206936.1:c.1021+76_1021+84delinsCTAGCCCTG NP_001193865.1:n.1021+76_1021+84delinsCTAGCCCTG
NM_001206940.1:c.*29+76_*29+84delinsCTAGCCCTG NP_001193869.1:n.*29+76_*29+84delinsCTAGCCCTG
NM_001206954.1:c.931+76_931+84delinsCTAGCCCTG NP_001193883.1:n.931+76_931+84delinsCTAGCCCTG
NM_001206966.1:c.*29+76_*29+84delinsCTAGCCCTG NP_001193895.1:n.*29+76_*29+84delinsCTAGCCCTG
NM_172197.2:c.866_874delinsCTAGCCCTG NP_751947.1:p.Ser289=
NR_038190.1:n.1304_1312delinsCTAGCCCTG
XM_017010328.2:c.1072+76_1072+84delinsCTAGCCCTG XP_016865817.1:n.1072+76_1072+84delinsCTAGCCCTG
XR_001743189.2:n.1085_1093delinsCTAGCCCTG
XR_001743190.2:n.1037_1045delinsCTAGCCCTG
NM_001136.5:c.1021_1029delinsCTAGCCCTG MANE Select NP_001127.1:p.Leu341=
NM_001206932.2:c.979_987delinsCTAGCCCTG NP_001193861.1:p.Leu327=
NM_001206936.2:c.1021+76_1021+84delinsCTAGCCCTG NP_001193865.1:n.1021+76_1021+84delinsCTAGCCCTG
NM_001206940.2:c.*29+76_*29+84delinsCTAGCCCTG NP_001193869.1:n.*29+76_*29+84delinsCTAGCCCTG
NM_001206954.2:c.931+76_931+84delinsCTAGCCCTG NP_001193883.1:n.931+76_931+84delinsCTAGCCCTG
NM_001206966.2:c.*29+76_*29+84delinsCTAGCCCTG NP_001193895.1:n.*29+76_*29+84delinsCTAGCCCTG
NM_172197.3:c.866_874delinsCTAGCCCTG NP_751947.1:p.Ser289=
NR_038190.2:n.1235_1243delinsCTAGCCCTG
NM_001206929.2:c.1069_1077delinsCTAGCCCTG NP_001193858.1:p.Leu357=
NM_001206934.2:c.*29+76_*29+84delinsCTAGCCCTG NP_001193863.1:n.*29+76_*29+84delinsCTAGCCCTG