Canonical Allele Identifier: CA1619453126

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183724_32183725delinsCT , CM000668.2:g.32183724_32183725delinsCT	GRCh38
NC_000006.11:g.32151501_32151502delinsCT , CM000668.1:g.32151501_32151502delinsCT	GRCh37
NC_000006.10:g.32259479_32259480delinsCT	NCBI36
NG_029868.1:g.5598_5599delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.185_186delinsAG MANE Select	ENSP00000364217.4:p.Lys62=
ENST00000375055.6:c.185_186delinsAG	ENSP00000364195.2:p.Lys62=
ENST00000375056.6:c.185_186delinsAG	ENSP00000364196.2:p.Lys62=
ENST00000375065.6:c.-182+233_-182+234delinsAG	ENSP00000364206.6:n.-182+233_-182+234delinsAG
ENST00000375067.7:c.160-17_160-16delinsAG	ENSP00000364208.3:n.160-17_160-16delinsAG
ENST00000375069.7:c.185_186delinsAG	ENSP00000364210.4:p.Lys62=
ENST00000375070.7:c.-119_-118delinsAG	ENSP00000364211.4:n.-119_-118delinsAG
ENST00000375076.8:c.185_186delinsAG	ENSP00000364217.4:p.Lys62=
ENST00000438221.6:c.185_186delinsAG	ENSP00000387887.2:p.Lys62=
ENST00000450110.5:c.185_186delinsAG	ENSP00000398466.1:p.Lys62=
ENST00000484849.5:n.392_393delinsAG
ENST00000538695.2:c.185_186delinsAG	ENSP00000445389.1:p.Lys62=
ENST00000620802.4:c.185_186delinsAG	ENSP00000484081.1:p.Lys62=
NM_001136.4:c.185_186delinsAG	NP_001127.1:p.Lys62=
NM_001206929.1:c.185_186delinsAG	NP_001193858.1:p.Lys62=
NM_001206932.1:c.160-17_160-16delinsAG	NP_001193861.1:n.160-17_160-16delinsAG
NM_001206934.1:c.185_186delinsAG	NP_001193863.1:p.Lys62=
NM_001206936.1:c.185_186delinsAG	NP_001193865.1:p.Lys62=
NM_001206940.1:c.185_186delinsAG	NP_001193869.1:p.Lys62=
NM_001206954.1:c.185_186delinsAG	NP_001193883.1:p.Lys62=
NM_001206966.1:c.185_186delinsAG	NP_001193895.1:p.Lys62=
NM_172197.2:c.160-17_160-16delinsAG	NP_751947.1:n.160-17_160-16delinsAG
NR_038190.1:n.468_469delinsAG
XM_017010328.2:c.278_279delinsAG	XP_016865817.1:p.Lys93=
XR_001743189.2:n.343_344delinsAG
XR_001743190.2:n.343_344delinsAG
NM_001136.5:c.185_186delinsAG MANE Select	NP_001127.1:p.Lys62=
NM_001206932.2:c.160-17_160-16delinsAG	NP_001193861.1:n.160-17_160-16delinsAG
NM_001206936.2:c.185_186delinsAG	NP_001193865.1:p.Lys62=
NM_001206940.2:c.185_186delinsAG	NP_001193869.1:p.Lys62=
NM_001206954.2:c.185_186delinsAG	NP_001193883.1:p.Lys62=
NM_001206966.2:c.185_186delinsAG	NP_001193895.1:p.Lys62=
NM_172197.3:c.160-17_160-16delinsAG	NP_751947.1:n.160-17_160-16delinsAG
NR_038190.2:n.399_400delinsAG
NM_001206929.2:c.185_186delinsAG	NP_001193858.1:p.Lys62=
NM_001206934.2:c.185_186delinsAG	NP_001193863.1:p.Lys62=