Canonical Allele Identifier: CA2770520130

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181567_32181627del , CM000668.2:g.32181567_32181627del	GRCh38
NC_000006.11:g.32149344_32149404del , CM000668.1:g.32149344_32149404del	GRCh37
NC_000006.10:g.32257322_32257382del	NCBI36
NG_029868.1:g.7696_7756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.970_991+39del
ENST00000375055.6:c.970_1030del	ENSP00000364195.2:p.Gly324ProfsTer30
ENST00000375065.6:c.157_178+39del
ENST00000375067.7:c.815_836+39del
ENST00000375069.7:c.1018_1039+39del
ENST00000375070.7:c.662-150_662-90del	ENSP00000364211.4:n.662-150_662-90del
ENST00000375076.8:c.970_991+39del
ENST00000438221.6:c.1018_1078del	ENSP00000387887.2:p.Gly340ProfsTer30
ENST00000469940.5:n.9_69del
ENST00000473619.5:n.512_533+39del
ENST00000484849.5:n.1177_1198+39del
ENST00000488669.5:n.512_572del
ENST00000620802.4:c.283-194_283-134del	ENSP00000484081.1:n.283-194_283-134del
NM_001136.4:c.970_991+39del
NM_001206929.1:c.1018_1039+39del
NM_001206932.1:c.928_949+39del
NM_001206934.1:c.1018_1078del	NP_001193863.1:p.Gly340ProfsTer30
NM_001206936.1:c.918_978del	NP_001193865.1:p.Gln306HisfsTer?
NM_001206940.1:c.970_1030del	NP_001193869.1:p.Gly324ProfsTer30
NM_001206954.1:c.828_888del	NP_001193883.1:p.Gln276HisfsTer?
NM_001206966.1:c.970_1030del	NP_001193895.1:p.Gly324ProfsTer?
NM_172197.2:c.815_836+39del
NR_038190.1:n.1253_1274+39del
XM_017010328.2:c.969_1029del	XP_016865817.1:p.Gln323HisfsTer?
XR_001743189.2:n.1034_1055+39del
XR_001743190.2:n.986_1007+39del
NM_001136.5:c.970_991+39del
NM_001206932.2:c.928_949+39del
NM_001206936.2:c.918_978del	NP_001193865.1:p.Gln306HisfsTer?
NM_001206940.2:c.970_1030del	NP_001193869.1:p.Gly324ProfsTer30
NM_001206954.2:c.828_888del	NP_001193883.1:p.Gln276HisfsTer?
NM_001206966.2:c.970_1030del	NP_001193895.1:p.Gly324ProfsTer?
NM_172197.3:c.815_836+39del
NR_038190.2:n.1184_1205+39del
NM_001206929.2:c.1018_1039+39del
NM_001206934.2:c.1018_1078del	NP_001193863.1:p.Gly340ProfsTer30