Canonical Allele Identifier: CA1619453109

Gene: AGER

Linked Data

• dbSNP Id: rs1786692911

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183706_32183708del , CM000668.2:g.32183706_32183708del	GRCh38
NC_000006.11:g.32151483_32151485del , CM000668.1:g.32151483_32151485del	GRCh37
NC_000006.10:g.32259461_32259463del	NCBI36
NG_029868.1:g.5620_5622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.207_209del MANE Select	ENSP00000364217.4:p.Gly70del
ENST00000375055.6:c.207_209del	ENSP00000364195.2:p.Gly70del
ENST00000375056.6:c.207_209del	ENSP00000364196.2:p.Gly70del
ENST00000375065.6:c.-182+255_-182+257del	ENSP00000364206.6:n.-182+255_-182+257del
ENST00000375067.7:c.165_167del	ENSP00000364208.3:p.Gly56del
ENST00000375069.7:c.207_209del	ENSP00000364210.4:p.Gly70del
ENST00000375070.7:c.-97_-95del	ENSP00000364211.4:n.-97_-95del
ENST00000375076.8:c.207_209del	ENSP00000364217.4:p.Gly70del
ENST00000438221.6:c.207_209del	ENSP00000387887.2:p.Gly70del
ENST00000450110.5:c.207_209del	ENSP00000398466.1:p.Gly70del
ENST00000484849.5:n.414_416del
ENST00000538695.2:c.207_209del	ENSP00000445389.1:p.Gly70del
ENST00000620802.4:c.207_209del	ENSP00000484081.1:p.Gly70del
NM_001136.4:c.207_209del	NP_001127.1:p.Gly70del
NM_001206929.1:c.207_209del	NP_001193858.1:p.Gly70del
NM_001206932.1:c.165_167del	NP_001193861.1:p.Gly56del
NM_001206934.1:c.207_209del	NP_001193863.1:p.Gly70del
NM_001206936.1:c.207_209del	NP_001193865.1:p.Gly70del
NM_001206940.1:c.207_209del	NP_001193869.1:p.Gly70del
NM_001206954.1:c.207_209del	NP_001193883.1:p.Gly70del
NM_001206966.1:c.207_209del	NP_001193895.1:p.Gly70del
NM_172197.2:c.165_167del	NP_751947.1:p.Gly56del
NR_038190.1:n.490_492del
XM_017010328.2:c.300_302del	XP_016865817.1:p.Gly101del
XR_001743189.2:n.365_367del
XR_001743190.2:n.365_367del
NM_001136.5:c.207_209del MANE Select	NP_001127.1:p.Gly70del
NM_001206932.2:c.165_167del	NP_001193861.1:p.Gly56del
NM_001206936.2:c.207_209del	NP_001193865.1:p.Gly70del
NM_001206940.2:c.207_209del	NP_001193869.1:p.Gly70del
NM_001206954.2:c.207_209del	NP_001193883.1:p.Gly70del
NM_001206966.2:c.207_209del	NP_001193895.1:p.Gly70del
NM_172197.3:c.165_167del	NP_751947.1:p.Gly56del
NR_038190.2:n.421_423del
NM_001206929.2:c.207_209del	NP_001193858.1:p.Gly70del
NM_001206934.2:c.207_209del	NP_001193863.1:p.Gly70del