Canonical Allele Identifier: CA1619451812

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182191_32182192delinsCT , CM000668.2:g.32182191_32182192delinsCT	GRCh38
NC_000006.11:g.32149968_32149969delinsCT , CM000668.1:g.32149968_32149969delinsCT	GRCh37
NC_000006.10:g.32257946_32257947delinsCT	NCBI36
NG_029868.1:g.7131_7132delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.964+55_964+56delinsAG MANE Select	ENSP00000364217.4:n.964+55_964+56delinsAG
ENST00000375055.6:c.964+55_964+56delinsAG	ENSP00000364195.2:n.964+55_964+56delinsAG
ENST00000375065.6:c.151+55_151+56delinsAG	ENSP00000364206.6:n.151+55_151+56delinsAG
ENST00000375067.7:c.809+347_809+348delinsAG	ENSP00000364208.3:n.809+347_809+348delinsAG
ENST00000375069.7:c.1012+55_1012+56delinsAG	ENSP00000364210.4:n.1012+55_1012+56delinsAG
ENST00000375070.7:c.661+55_661+56delinsAG	ENSP00000364211.4:n.661+55_661+56delinsAG
ENST00000375076.8:c.964+55_964+56delinsAG	ENSP00000364217.4:n.964+55_964+56delinsAG
ENST00000438221.6:c.1012+55_1012+56delinsAG	ENSP00000387887.2:n.1012+55_1012+56delinsAG
ENST00000473619.5:n.506+55_506+56delinsAG
ENST00000484849.5:n.1171+55_1171+56delinsAG
ENST00000488669.5:n.506+55_506+56delinsAG
ENST00000620802.4:c.283-759_283-758delinsAG	ENSP00000484081.1:n.283-759_283-758delinsAG
NM_001136.4:c.964+55_964+56delinsAG	NP_001127.1:n.964+55_964+56delinsAG
NM_001206929.1:c.1012+55_1012+56delinsAG	NP_001193858.1:n.1012+55_1012+56delinsAG
NM_001206932.1:c.922+55_922+56delinsAG	NP_001193861.1:n.922+55_922+56delinsAG
NM_001206934.1:c.1012+55_1012+56delinsAG	NP_001193863.1:n.1012+55_1012+56delinsAG
NM_001206936.1:c.912+55_912+56delinsAG	NP_001193865.1:n.912+55_912+56delinsAG
NM_001206940.1:c.964+55_964+56delinsAG	NP_001193869.1:n.964+55_964+56delinsAG
NM_001206954.1:c.822+376_822+377delinsAG	NP_001193883.1:n.822+376_822+377delinsAG
NM_001206966.1:c.964+55_964+56delinsAG	NP_001193895.1:n.964+55_964+56delinsAG
NM_172197.2:c.809+347_809+348delinsAG	NP_751947.1:n.809+347_809+348delinsAG
NR_038190.1:n.1247+55_1247+56delinsAG
XM_017010328.2:c.963+376_963+377delinsAG	XP_016865817.1:n.963+376_963+377delinsAG
XR_001743189.2:n.1028+376_1028+377delinsAG
XR_001743190.2:n.980+376_980+377delinsAG
NM_001136.5:c.964+55_964+56delinsAG MANE Select	NP_001127.1:n.964+55_964+56delinsAG
NM_001206932.2:c.922+55_922+56delinsAG	NP_001193861.1:n.922+55_922+56delinsAG
NM_001206936.2:c.912+55_912+56delinsAG	NP_001193865.1:n.912+55_912+56delinsAG
NM_001206940.2:c.964+55_964+56delinsAG	NP_001193869.1:n.964+55_964+56delinsAG
NM_001206954.2:c.822+376_822+377delinsAG	NP_001193883.1:n.822+376_822+377delinsAG
NM_001206966.2:c.964+55_964+56delinsAG	NP_001193895.1:n.964+55_964+56delinsAG
NM_172197.3:c.809+347_809+348delinsAG	NP_751947.1:n.809+347_809+348delinsAG
NR_038190.2:n.1178+55_1178+56delinsAG
NM_001206929.2:c.1012+55_1012+56delinsAG	NP_001193858.1:n.1012+55_1012+56delinsAG
NM_001206934.2:c.1012+55_1012+56delinsAG	NP_001193863.1:n.1012+55_1012+56delinsAG