Canonical Allele Identifier: CA2770520134

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181592_32181628del , CM000668.2:g.32181592_32181628del	GRCh38
NC_000006.11:g.32149369_32149405del , CM000668.1:g.32149369_32149405del	GRCh37
NC_000006.10:g.32257347_32257383del	NCBI36
NG_029868.1:g.7696_7732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.970_991+15del
ENST00000375055.6:c.970_1006del	ENSP00000364195.2:p.Gly324LysfsTer?
ENST00000375065.6:c.157_178+15del
ENST00000375067.7:c.815_836+15del
ENST00000375069.7:c.1018_1039+15del
ENST00000375070.7:c.662-150_662-114del	ENSP00000364211.4:n.662-150_662-114del
ENST00000375076.8:c.970_991+15del
ENST00000438221.6:c.1018_1054del	ENSP00000387887.2:p.Gly340LysfsTer?
ENST00000469940.5:n.9_45del
ENST00000473619.5:n.512_533+15del
ENST00000484849.5:n.1177_1198+15del
ENST00000488669.5:n.512_548del
ENST00000620802.4:c.283-194_283-158del	ENSP00000484081.1:n.283-194_283-158del
NM_001136.4:c.970_991+15del
NM_001206929.1:c.1018_1039+15del
NM_001206932.1:c.928_949+15del
NM_001206934.1:c.1018_1054del	NP_001193863.1:p.Gly340LysfsTer?
NM_001206936.1:c.918_954del	NP_001193865.1:p.Ala307SerfsTer7
NM_001206940.1:c.970_1006del	NP_001193869.1:p.Gly324LysfsTer?
NM_001206954.1:c.828_864del	NP_001193883.1:p.Ala277SerfsTer7
NM_001206966.1:c.970_1006del	NP_001193895.1:p.Gly324LysfsTer?
NM_172197.2:c.815_836+15del
NR_038190.1:n.1253_1274+15del
XM_017010328.2:c.969_1005del	XP_016865817.1:p.Ala324SerfsTer7
XR_001743189.2:n.1034_1055+15del
XR_001743190.2:n.986_1007+15del
NM_001136.5:c.970_991+15del
NM_001206932.2:c.928_949+15del
NM_001206936.2:c.918_954del	NP_001193865.1:p.Ala307SerfsTer7
NM_001206940.2:c.970_1006del	NP_001193869.1:p.Gly324LysfsTer?
NM_001206954.2:c.828_864del	NP_001193883.1:p.Ala277SerfsTer7
NM_001206966.2:c.970_1006del	NP_001193895.1:p.Gly324LysfsTer?
NM_172197.3:c.815_836+15del
NR_038190.2:n.1184_1205+15del
NM_001206929.2:c.1018_1039+15del
NM_001206934.2:c.1018_1054del	NP_001193863.1:p.Gly340LysfsTer?