Canonical Allele Identifier: CA1619451705
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32182040_32182044delinsCCTTT , CM000668.2:g.32182040_32182044delinsCCTTT GRCh38
NC_000006.11:g.32149817_32149821delinsCCTTT , CM000668.1:g.32149817_32149821delinsCCTTT GRCh37
NC_000006.10:g.32257795_32257799delinsCCTTT NCBI36
NG_029868.1:g.7279_7283delinsAAAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000375076.9:c.964+203_964+207delinsAAAGG MANE Select ENSP00000364217.4:n.964+203_964+207delins...
ENST00000375055.6:c.964+203_964+207delinsAAAGG ENSP00000364195.2:n.964+203_964+207delins...
ENST00000375065.6:c.151+203_151+207delinsAAAGG ENSP00000364206.6:n.151+203_151+207delins...
ENST00000375067.7:c.810-412_810-408delinsAAAGG ENSP00000364208.3:n.810-412_810-408delins...
ENST00000375069.7:c.1012+203_1012+207delinsAAAGG ENSP00000364210.4:n.1012+203_1012+207deli...
ENST00000375070.7:c.661+203_661+207delinsAAAGG ENSP00000364211.4:n.661+203_661+207delins...
ENST00000375076.8:c.964+203_964+207delinsAAAGG ENSP00000364217.4:n.964+203_964+207delins...
ENST00000438221.6:c.1012+203_1012+207delinsAAAGG ENSP00000387887.2:n.1012+203_1012+207deli...
ENST00000473619.5:n.506+203_506+207delinsAAAGG
ENST00000484849.5:n.1171+203_1171+207delinsAAAGG
ENST00000488669.5:n.506+203_506+207delinsAAAGG
ENST00000620802.4:c.283-611_283-607delinsAAAGG ENSP00000484081.1:n.283-611_283-607delins...
NM_001136.4:c.964+203_964+207delinsAAAGG NP_001127.1:n.964+203_964+207delinsAAAGG
NM_001206929.1:c.1012+203_1012+207delinsAAAGG NP_001193858.1:n.1012+203_1012+207delinsA...
NM_001206932.1:c.922+203_922+207delinsAAAGG NP_001193861.1:n.922+203_922+207delinsAAA...
NM_001206934.1:c.1012+203_1012+207delinsAAAGG NP_001193863.1:n.1012+203_1012+207delinsA...
NM_001206936.1:c.912+203_912+207delinsAAAGG NP_001193865.1:n.912+203_912+207delinsAAA...
NM_001206940.1:c.964+203_964+207delinsAAAGG NP_001193869.1:n.964+203_964+207delinsAAA...
NM_001206954.1:c.823-412_823-408delinsAAAGG NP_001193883.1:n.823-412_823-408delinsAAA...
NM_001206966.1:c.964+203_964+207delinsAAAGG NP_001193895.1:n.964+203_964+207delinsAAA...
NM_172197.2:c.810-412_810-408delinsAAAGG NP_751947.1:n.810-412_810-408delinsAAAGG
NR_038190.1:n.1247+203_1247+207delinsAAAGG
XM_017010328.2:c.964-412_964-408delinsAAAGG XP_016865817.1:n.964-412_964-408delinsAAA...
XR_001743189.2:n.1029-412_1029-408delinsAAAGG
XR_001743190.2:n.981-412_981-408delinsAAAGG
NM_001136.5:c.964+203_964+207delinsAAAGG MANE Select NP_001127.1:n.964+203_964+207delinsAAAGG
NM_001206932.2:c.922+203_922+207delinsAAAGG NP_001193861.1:n.922+203_922+207delinsAAA...
NM_001206936.2:c.912+203_912+207delinsAAAGG NP_001193865.1:n.912+203_912+207delinsAAA...
NM_001206940.2:c.964+203_964+207delinsAAAGG NP_001193869.1:n.964+203_964+207delinsAAA...
NM_001206954.2:c.823-412_823-408delinsAAAGG NP_001193883.1:n.823-412_823-408delinsAAA...
NM_001206966.2:c.964+203_964+207delinsAAAGG NP_001193895.1:n.964+203_964+207delinsAAA...
NM_172197.3:c.810-412_810-408delinsAAAGG NP_751947.1:n.810-412_810-408delinsAAAGG
NR_038190.2:n.1178+203_1178+207delinsAAAGG
NM_001206929.2:c.1012+203_1012+207delinsAAAGG NP_001193858.1:n.1012+203_1012+207delinsA...
NM_001206934.2:c.1012+203_1012+207delinsAAAGG NP_001193863.1:n.1012+203_1012+207delinsA...