Canonical Allele Identifier: CA2578576813

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182238_32182239del , CM000668.2:g.32182238_32182239del	GRCh38
NC_000006.11:g.32150015_32150016del , CM000668.1:g.32150015_32150016del	GRCh37
NC_000006.10:g.32257993_32257994del	NCBI36
NG_029868.1:g.7087_7088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.964+11_964+12del MANE Select	ENSP00000364217.4:n.964+11_964+12del
ENST00000375055.6:c.964+11_964+12del	ENSP00000364195.2:n.964+11_964+12del
ENST00000375065.6:c.151+11_151+12del	ENSP00000364206.6:n.151+11_151+12del
ENST00000375067.7:c.809+303_809+304del	ENSP00000364208.3:n.809+303_809+304del
ENST00000375069.7:c.1012+11_1012+12del	ENSP00000364210.4:n.1012+11_1012+12del
ENST00000375070.7:c.661+11_661+12del	ENSP00000364211.4:n.661+11_661+12del
ENST00000375076.8:c.964+11_964+12del	ENSP00000364217.4:n.964+11_964+12del
ENST00000438221.6:c.1012+11_1012+12del	ENSP00000387887.2:n.1012+11_1012+12del
ENST00000473619.5:n.506+11_506+12del
ENST00000484849.5:n.1171+11_1171+12del
ENST00000488669.5:n.506+11_506+12del
ENST00000620802.4:c.283-803_283-802del	ENSP00000484081.1:n.283-803_283-802del
NM_001136.4:c.964+11_964+12del	NP_001127.1:n.964+11_964+12del
NM_001206929.1:c.1012+11_1012+12del	NP_001193858.1:n.1012+11_1012+12del
NM_001206932.1:c.922+11_922+12del	NP_001193861.1:n.922+11_922+12del
NM_001206934.1:c.1012+11_1012+12del	NP_001193863.1:n.1012+11_1012+12del
NM_001206936.1:c.912+11_912+12del	NP_001193865.1:n.912+11_912+12del
NM_001206940.1:c.964+11_964+12del	NP_001193869.1:n.964+11_964+12del
NM_001206954.1:c.822+332_822+333del	NP_001193883.1:n.822+332_822+333del
NM_001206966.1:c.964+11_964+12del	NP_001193895.1:n.964+11_964+12del
NM_172197.2:c.809+303_809+304del	NP_751947.1:n.809+303_809+304del
NR_038190.1:n.1247+11_1247+12del
XM_017010328.2:c.963+332_963+333del	XP_016865817.1:n.963+332_963+333del
XR_001743189.2:n.1028+332_1028+333del
XR_001743190.2:n.980+332_980+333del
NM_001136.5:c.964+11_964+12del MANE Select	NP_001127.1:n.964+11_964+12del
NM_001206932.2:c.922+11_922+12del	NP_001193861.1:n.922+11_922+12del
NM_001206936.2:c.912+11_912+12del	NP_001193865.1:n.912+11_912+12del
NM_001206940.2:c.964+11_964+12del	NP_001193869.1:n.964+11_964+12del
NM_001206954.2:c.822+332_822+333del	NP_001193883.1:n.822+332_822+333del
NM_001206966.2:c.964+11_964+12del	NP_001193895.1:n.964+11_964+12del
NM_172197.3:c.809+303_809+304del	NP_751947.1:n.809+303_809+304del
NR_038190.2:n.1178+11_1178+12del
NM_001206929.2:c.1012+11_1012+12del	NP_001193858.1:n.1012+11_1012+12del
NM_001206934.2:c.1012+11_1012+12del	NP_001193863.1:n.1012+11_1012+12del