Canonical Allele Identifier: CA2770520171

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182070_32182072del , CM000668.2:g.32182070_32182072del	GRCh38
NC_000006.11:g.32149847_32149849del , CM000668.1:g.32149847_32149849del	GRCh37
NC_000006.10:g.32257825_32257827del	NCBI36
NG_029868.1:g.7252_7254del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.964+176_964+178del MANE Select	ENSP00000364217.4:n.964+176_964+178del
ENST00000375055.6:c.964+176_964+178del	ENSP00000364195.2:n.964+176_964+178del
ENST00000375065.6:c.151+176_151+178del	ENSP00000364206.6:n.151+176_151+178del
ENST00000375067.7:c.810-439_810-437del	ENSP00000364208.3:n.810-439_810-437del
ENST00000375069.7:c.1012+176_1012+178del	ENSP00000364210.4:n.1012+176_1012+178del
ENST00000375070.7:c.661+176_661+178del	ENSP00000364211.4:n.661+176_661+178del
ENST00000375076.8:c.964+176_964+178del	ENSP00000364217.4:n.964+176_964+178del
ENST00000438221.6:c.1012+176_1012+178del	ENSP00000387887.2:n.1012+176_1012+178del
ENST00000473619.5:n.506+176_506+178del
ENST00000484849.5:n.1171+176_1171+178del
ENST00000488669.5:n.506+176_506+178del
ENST00000620802.4:c.283-638_283-636del	ENSP00000484081.1:n.283-638_283-636del
NM_001136.4:c.964+176_964+178del	NP_001127.1:n.964+176_964+178del
NM_001206929.1:c.1012+176_1012+178del	NP_001193858.1:n.1012+176_1012+178del
NM_001206932.1:c.922+176_922+178del	NP_001193861.1:n.922+176_922+178del
NM_001206934.1:c.1012+176_1012+178del	NP_001193863.1:n.1012+176_1012+178del
NM_001206936.1:c.912+176_912+178del	NP_001193865.1:n.912+176_912+178del
NM_001206940.1:c.964+176_964+178del	NP_001193869.1:n.964+176_964+178del
NM_001206954.1:c.823-439_823-437del	NP_001193883.1:n.823-439_823-437del
NM_001206966.1:c.964+176_964+178del	NP_001193895.1:n.964+176_964+178del
NM_172197.2:c.810-439_810-437del	NP_751947.1:n.810-439_810-437del
NR_038190.1:n.1247+176_1247+178del
XM_017010328.2:c.964-439_964-437del	XP_016865817.1:n.964-439_964-437del
XR_001743189.2:n.1029-439_1029-437del
XR_001743190.2:n.981-439_981-437del
NM_001136.5:c.964+176_964+178del MANE Select	NP_001127.1:n.964+176_964+178del
NM_001206932.2:c.922+176_922+178del	NP_001193861.1:n.922+176_922+178del
NM_001206936.2:c.912+176_912+178del	NP_001193865.1:n.912+176_912+178del
NM_001206940.2:c.964+176_964+178del	NP_001193869.1:n.964+176_964+178del
NM_001206954.2:c.823-439_823-437del	NP_001193883.1:n.823-439_823-437del
NM_001206966.2:c.964+176_964+178del	NP_001193895.1:n.964+176_964+178del
NM_172197.3:c.810-439_810-437del	NP_751947.1:n.810-439_810-437del
NR_038190.2:n.1178+176_1178+178del
NM_001206929.2:c.1012+176_1012+178del	NP_001193858.1:n.1012+176_1012+178del
NM_001206934.2:c.1012+176_1012+178del	NP_001193863.1:n.1012+176_1012+178del