Canonical Allele Identifier: CA2770520128

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181552_32181553del , CM000668.2:g.32181552_32181553del	GRCh38
NC_000006.11:g.32149329_32149330del , CM000668.1:g.32149329_32149330del	GRCh37
NC_000006.10:g.32257307_32257308del	NCBI36
NG_029868.1:g.7770_7771del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.991+53_991+54del MANE Select	ENSP00000364217.4:n.991+53_991+54del
ENST00000375055.6:c.1044_*1del	ENSP00000364195.2:n.[c.1044_*1del;Ter348CysextTer?]
ENST00000375065.6:c.178+53_178+54del	ENSP00000364206.6:n.178+53_178+54del
ENST00000375067.7:c.836+53_836+54del	ENSP00000364208.3:n.836+53_836+54del
ENST00000375069.7:c.1039+53_1039+54del	ENSP00000364210.4:n.1039+53_1039+54del
ENST00000375070.7:c.662-76_662-75del	ENSP00000364211.4:n.662-76_662-75del
ENST00000375076.8:c.991+53_991+54del	ENSP00000364217.4:n.991+53_991+54del
ENST00000438221.6:c.1092_*1del	ENSP00000387887.2:n.[c.1092_*1del;Ter364CysextTer?]
ENST00000469940.5:n.83_84del
ENST00000473619.5:n.533+53_533+54del
ENST00000484849.5:n.1198+53_1198+54del
ENST00000488669.5:n.586_587del
ENST00000620802.4:c.283-120_283-119del	ENSP00000484081.1:n.283-120_283-119del
NM_001136.4:c.991+53_991+54del	NP_001127.1:n.991+53_991+54del
NM_001206929.1:c.1039+53_1039+54del	NP_001193858.1:n.1039+53_1039+54del
NM_001206932.1:c.949+53_949+54del	NP_001193861.1:n.949+53_949+54del
NM_001206934.1:c.1092_*1del	NP_001193863.1:n.[c.1092_*1del;Ter364CysextTer?]
NM_001206936.1:c.992_993del	NP_001193865.1:p.Asp331ValfsTer?
NM_001206940.1:c.1044_*1del	NP_001193869.1:n.[c.1044_*1del;Ter348CysextTer?]
NM_001206954.1:c.902_903del	NP_001193883.1:p.Asp301ValfsTer?
NM_001206966.1:c.1044_*1del	NP_001193895.1:n.[c.1044_*1del;Ter348CysextTer?]
NM_172197.2:c.836+53_836+54del	NP_751947.1:n.836+53_836+54del
NR_038190.1:n.1274+53_1274+54del
XM_017010328.2:c.1043_1044del	XP_016865817.1:p.Asp348ValfsTer?
XR_001743189.2:n.1055+53_1055+54del
XR_001743190.2:n.1007+53_1007+54del
NM_001136.5:c.991+53_991+54del MANE Select	NP_001127.1:n.991+53_991+54del
NM_001206932.2:c.949+53_949+54del	NP_001193861.1:n.949+53_949+54del
NM_001206936.2:c.992_993del	NP_001193865.1:p.Asp331ValfsTer?
NM_001206940.2:c.1044_*1del	NP_001193869.1:n.[c.1044_*1del;Ter348CysextTer?]
NM_001206954.2:c.902_903del	NP_001193883.1:p.Asp301ValfsTer?
NM_001206966.2:c.1044_*1del	NP_001193895.1:n.[c.1044_*1del;Ter348CysextTer?]
NM_172197.3:c.836+53_836+54del	NP_751947.1:n.836+53_836+54del
NR_038190.2:n.1205+53_1205+54del
NM_001206929.2:c.1039+53_1039+54del	NP_001193858.1:n.1039+53_1039+54del
NM_001206934.2:c.1092_*1del	NP_001193863.1:n.[c.1092_*1del;Ter364CysextTer?]