Canonical Allele Identifier: CA3738011

Gene: AGER

Linked Data

• dbSNP Id: rs764869438
• ExAC: 6:32150026 A / ATGATGC
• gnomAD v2: 6-32150026-A-ATGATGC
• MyVariant Identifiers: chr6:g.32150026_32150027insTGATGC (hg19) ; chr6:g.32182249_32182250insTGATGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182259_32182264dup , CM000668.2:g.32182259_32182264dup	GRCh38
NC_000006.11:g.32150036_32150041dup , CM000668.1:g.32150036_32150041dup	GRCh37
NC_000006.10:g.32258014_32258019dup	NCBI36
NG_029868.1:g.7068_7073dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.956_961dup MANE Select	ENSP00000364217.4:p.Ile320_Ile321insSerIle
ENST00000375055.6:c.956_961dup	ENSP00000364195.2:p.Ile320_Ile321insSerIle
ENST00000375065.6:c.143_148dup	ENSP00000364206.6:p.Ile49_Ile50insSerIle
ENST00000375067.7:c.809+284_809+289dup	ENSP00000364208.3:n.809+284_809+289dup
ENST00000375069.7:c.1004_1009dup	ENSP00000364210.4:p.Ile336_Ile337insSerIle
ENST00000375070.7:c.653_658dup	ENSP00000364211.4:p.Ile219_Ile220insSerIle
ENST00000375076.8:c.956_961dup	ENSP00000364217.4:p.Ile320_Ile321insSerIle
ENST00000438221.6:c.1004_1009dup	ENSP00000387887.2:p.Ile336_Ile337insSerIle
ENST00000473619.5:n.498_503dup
ENST00000484849.5:n.1163_1168dup
ENST00000488669.5:n.498_503dup
ENST00000620802.4:c.283-822_283-817dup	ENSP00000484081.1:n.283-822_283-817dup
NM_001136.4:c.956_961dup	NP_001127.1:p.Ile320_Ile321insSerIle
NM_001206929.1:c.1004_1009dup	NP_001193858.1:p.Ile336_Ile337insSerIle
NM_001206932.1:c.914_919dup	NP_001193861.1:p.Ile306_Ile307insSerIle
NM_001206934.1:c.1004_1009dup	NP_001193863.1:p.Ile336_Ile337insSerIle
NM_001206936.1:c.904_909dup	NP_001193865.1:p.Ser303_Ser304insAlaSer
NM_001206940.1:c.956_961dup	NP_001193869.1:p.Ile320_Ile321insSerIle
NM_001206954.1:c.822+313_822+318dup	NP_001193883.1:n.822+313_822+318dup
NM_001206966.1:c.956_961dup	NP_001193895.1:p.Ile320_Ile321insSerIle
NM_172197.2:c.809+284_809+289dup	NP_751947.1:n.809+284_809+289dup
NR_038190.1:n.1239_1244dup
XM_017010328.2:c.963+313_963+318dup	XP_016865817.1:n.963+313_963+318dup
XR_001743189.2:n.1028+313_1028+318dup
XR_001743190.2:n.980+313_980+318dup
NM_001136.5:c.956_961dup MANE Select	NP_001127.1:p.Ile320_Ile321insSerIle
NM_001206932.2:c.914_919dup	NP_001193861.1:p.Ile306_Ile307insSerIle
NM_001206936.2:c.904_909dup	NP_001193865.1:p.Ser303_Ser304insAlaSer
NM_001206940.2:c.956_961dup	NP_001193869.1:p.Ile320_Ile321insSerIle
NM_001206954.2:c.822+313_822+318dup	NP_001193883.1:n.822+313_822+318dup
NM_001206966.2:c.956_961dup	NP_001193895.1:p.Ile320_Ile321insSerIle
NM_172197.3:c.809+284_809+289dup	NP_751947.1:n.809+284_809+289dup
NR_038190.2:n.1170_1175dup
NM_001206929.2:c.1004_1009dup	NP_001193858.1:p.Ile336_Ile337insSerIle
NM_001206934.2:c.1004_1009dup	NP_001193863.1:p.Ile336_Ile337insSerIle