Canonical Allele Identifier: CA2770520133

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181587_32181588del , CM000668.2:g.32181587_32181588del	GRCh38
NC_000006.11:g.32149364_32149365del , CM000668.1:g.32149364_32149365del	GRCh37
NC_000006.10:g.32257342_32257343del	NCBI36
NG_029868.1:g.7735_7736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+18_991+19del MANE Select	ENSP00000364217.4:n.991+18_991+19del
ENST00000375055.6:c.1009_1010del	ENSP00000364195.2:p.Val337GlnfsTer6
ENST00000375065.6:c.178+18_178+19del	ENSP00000364206.6:n.178+18_178+19del
ENST00000375067.7:c.836+18_836+19del	ENSP00000364208.3:n.836+18_836+19del
ENST00000375069.7:c.1039+18_1039+19del	ENSP00000364210.4:n.1039+18_1039+19del
ENST00000375070.7:c.662-111_662-110del	ENSP00000364211.4:n.662-111_662-110del
ENST00000375076.8:c.991+18_991+19del	ENSP00000364217.4:n.991+18_991+19del
ENST00000438221.6:c.1057_1058del	ENSP00000387887.2:p.Val353GlnfsTer6
ENST00000469940.5:n.48_49del
ENST00000473619.5:n.533+18_533+19del
ENST00000484849.5:n.1198+18_1198+19del
ENST00000488669.5:n.551_552del
ENST00000620802.4:c.283-155_283-154del	ENSP00000484081.1:n.283-155_283-154del
NM_001136.4:c.991+18_991+19del	NP_001127.1:n.991+18_991+19del
NM_001206929.1:c.1039+18_1039+19del	NP_001193858.1:n.1039+18_1039+19del
NM_001206932.1:c.949+18_949+19del	NP_001193861.1:n.949+18_949+19del
NM_001206934.1:c.1057_1058del	NP_001193863.1:p.Val353GlnfsTer6
NM_001206936.1:c.957_958del	NP_001193865.1:p.Lys319AsnfsTer12
NM_001206940.1:c.1009_1010del	NP_001193869.1:p.Val337GlnfsTer6
NM_001206954.1:c.867_868del	NP_001193883.1:p.Lys289AsnfsTer12
NM_001206966.1:c.1009_1010del	NP_001193895.1:p.Val337GlnfsTer6
NM_172197.2:c.836+18_836+19del	NP_751947.1:n.836+18_836+19del
NR_038190.1:n.1274+18_1274+19del
XM_017010328.2:c.1008_1009del	XP_016865817.1:p.Lys336AsnfsTer12
XR_001743189.2:n.1055+18_1055+19del
XR_001743190.2:n.1007+18_1007+19del
NM_001136.5:c.991+18_991+19del MANE Select	NP_001127.1:n.991+18_991+19del
NM_001206932.2:c.949+18_949+19del	NP_001193861.1:n.949+18_949+19del
NM_001206936.2:c.957_958del	NP_001193865.1:p.Lys319AsnfsTer12
NM_001206940.2:c.1009_1010del	NP_001193869.1:p.Val337GlnfsTer6
NM_001206954.2:c.867_868del	NP_001193883.1:p.Lys289AsnfsTer12
NM_001206966.2:c.1009_1010del	NP_001193895.1:p.Val337GlnfsTer6
NM_172197.3:c.836+18_836+19del	NP_751947.1:n.836+18_836+19del
NR_038190.2:n.1205+18_1205+19del
NM_001206929.2:c.1039+18_1039+19del	NP_001193858.1:n.1039+18_1039+19del
NM_001206934.2:c.1057_1058del	NP_001193863.1:p.Val353GlnfsTer6