Canonical Allele Identifier: CA2678127975

Gene: AGER

Linked Data

• gnomAD v4: 6-32182123-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182126del , CM000668.2:g.32182126del	GRCh38
NC_000006.11:g.32149903del , CM000668.1:g.32149903del	GRCh37
NC_000006.10:g.32257881del	NCBI36
NG_029868.1:g.7199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.964+123del MANE Select	ENSP00000364217.4:n.964+123del
ENST00000375055.6:c.964+123del	ENSP00000364195.2:n.964+123del
ENST00000375065.6:c.151+123del	ENSP00000364206.6:n.151+123del
ENST00000375067.7:c.809+415del	ENSP00000364208.3:n.809+415del
ENST00000375069.7:c.1012+123del	ENSP00000364210.4:n.1012+123del
ENST00000375070.7:c.661+123del	ENSP00000364211.4:n.661+123del
ENST00000375076.8:c.964+123del	ENSP00000364217.4:n.964+123del
ENST00000438221.6:c.1012+123del	ENSP00000387887.2:n.1012+123del
ENST00000473619.5:n.506+123del
ENST00000484849.5:n.1171+123del
ENST00000488669.5:n.506+123del
ENST00000620802.4:c.283-691del	ENSP00000484081.1:n.283-691del
NM_001136.4:c.964+123del	NP_001127.1:n.964+123del
NM_001206929.1:c.1012+123del	NP_001193858.1:n.1012+123del
NM_001206932.1:c.922+123del	NP_001193861.1:n.922+123del
NM_001206934.1:c.1012+123del	NP_001193863.1:n.1012+123del
NM_001206936.1:c.912+123del	NP_001193865.1:n.912+123del
NM_001206940.1:c.964+123del	NP_001193869.1:n.964+123del
NM_001206954.1:c.822+444del	NP_001193883.1:n.822+444del
NM_001206966.1:c.964+123del	NP_001193895.1:n.964+123del
NM_172197.2:c.809+415del	NP_751947.1:n.809+415del
NR_038190.1:n.1247+123del
XM_017010328.2:c.963+444del	XP_016865817.1:n.963+444del
XR_001743189.2:n.1028+444del
XR_001743190.2:n.980+444del
NM_001136.5:c.964+123del MANE Select	NP_001127.1:n.964+123del
NM_001206932.2:c.922+123del	NP_001193861.1:n.922+123del
NM_001206936.2:c.912+123del	NP_001193865.1:n.912+123del
NM_001206940.2:c.964+123del	NP_001193869.1:n.964+123del
NM_001206954.2:c.822+444del	NP_001193883.1:n.822+444del
NM_001206966.2:c.964+123del	NP_001193895.1:n.964+123del
NM_172197.3:c.809+415del	NP_751947.1:n.809+415del
NR_038190.2:n.1178+123del
NM_001206929.2:c.1012+123del	NP_001193858.1:n.1012+123del
NM_001206934.2:c.1012+123del	NP_001193863.1:n.1012+123del