Canonical Allele Identifier: CA3737959

Gene: AGER

Linked Data

• dbSNP Id: rs749778750
• ExAC: 6:32149352 TCTGCTTCC / T
• gnomAD v2: 6-32149352-TCTGCTTCC-T
• MyVariant Identifiers: chr6:g.32149353_32149360del (hg19) ; chr6:g.32181576_32181583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181579_32181586del , CM000668.2:g.32181579_32181586del	GRCh38
NC_000006.11:g.32149356_32149363del , CM000668.1:g.32149356_32149363del	GRCh37
NC_000006.10:g.32257334_32257341del	NCBI36
NG_029868.1:g.7740_7747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+23_991+30del MANE Select	ENSP00000364217.4:n.991+23_991+30del
ENST00000375055.6:c.1014_1021del	ENSP00000364195.2:p.Glu339ArgfsTer2
ENST00000375065.6:c.178+23_178+30del	ENSP00000364206.6:n.178+23_178+30del
ENST00000375067.7:c.836+23_836+30del	ENSP00000364208.3:n.836+23_836+30del
ENST00000375069.7:c.1039+23_1039+30del	ENSP00000364210.4:n.1039+23_1039+30del
ENST00000375070.7:c.662-106_662-99del	ENSP00000364211.4:n.662-106_662-99del
ENST00000375076.8:c.991+23_991+30del	ENSP00000364217.4:n.991+23_991+30del
ENST00000438221.6:c.1062_1069del	ENSP00000387887.2:p.Glu355ArgfsTer2
ENST00000469940.5:n.53_60del
ENST00000473619.5:n.533+23_533+30del
ENST00000484849.5:n.1198+23_1198+30del
ENST00000488669.5:n.556_563del
ENST00000620802.4:c.283-150_283-143del	ENSP00000484081.1:n.283-150_283-143del
NM_001136.4:c.991+23_991+30del	NP_001127.1:n.991+23_991+30del
NM_001206929.1:c.1039+23_1039+30del	NP_001193858.1:n.1039+23_1039+30del
NM_001206932.1:c.949+23_949+30del	NP_001193861.1:n.949+23_949+30del
NM_001206934.1:c.1062_1069del	NP_001193863.1:p.Glu355ArgfsTer2
NM_001206936.1:c.962_969del	NP_001193865.1:p.Gly321GlufsTer8
NM_001206940.1:c.1014_1021del	NP_001193869.1:p.Glu339ArgfsTer2
NM_001206954.1:c.872_879del	NP_001193883.1:p.Gly291GlufsTer8
NM_001206966.1:c.1014_1021del	NP_001193895.1:p.Glu339ArgfsTer2
NM_172197.2:c.836+23_836+30del	NP_751947.1:n.836+23_836+30del
NR_038190.1:n.1274+23_1274+30del
XM_017010328.2:c.1013_1020del	XP_016865817.1:p.Gly338GlufsTer8
XR_001743189.2:n.1055+23_1055+30del
XR_001743190.2:n.1007+23_1007+30del
NM_001136.5:c.991+23_991+30del MANE Select	NP_001127.1:n.991+23_991+30del
NM_001206932.2:c.949+23_949+30del	NP_001193861.1:n.949+23_949+30del
NM_001206936.2:c.962_969del	NP_001193865.1:p.Gly321GlufsTer8
NM_001206940.2:c.1014_1021del	NP_001193869.1:p.Glu339ArgfsTer2
NM_001206954.2:c.872_879del	NP_001193883.1:p.Gly291GlufsTer8
NM_001206966.2:c.1014_1021del	NP_001193895.1:p.Glu339ArgfsTer2
NM_172197.3:c.836+23_836+30del	NP_751947.1:n.836+23_836+30del
NR_038190.2:n.1205+23_1205+30del
NM_001206929.2:c.1039+23_1039+30del	NP_001193858.1:n.1039+23_1039+30del
NM_001206934.2:c.1062_1069del	NP_001193863.1:p.Glu355ArgfsTer2