Canonical Allele Identifier: CA566695919

Gene: AGER

Linked Data

• dbSNP Id: rs1300754484
• gnomAD v2: 6-32151342-G-GACTCGGTA
• gnomAD v3: 6-32183565-G-GACTCGGTA
• gnomAD v4: 6-32183565-G-GACTCGGTA
• MyVariant Identifiers: chr6:g.32151342_32151343insACTCGGTA (hg19) ; chr6:g.32183565_32183566insACTCGGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183566_32183573dup , CM000668.2:g.32183566_32183573dup	GRCh38
NC_000006.11:g.32151343_32151350dup , CM000668.1:g.32151343_32151350dup	GRCh37
NC_000006.10:g.32259321_32259328dup	NCBI36
NG_029868.1:g.5750_5757dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.337_344dup MANE Select	ENSP00000364217.4:p.Arg116ThrfsTer15
ENST00000375055.6:c.337_344dup	ENSP00000364195.2:p.Arg116ThrfsTer15
ENST00000375056.6:c.337_344dup	ENSP00000364196.2:p.Arg116ThrfsTer15
ENST00000375065.6:c.-182+385_-182+392dup	ENSP00000364206.6:n.-182+385_-182+392dup
ENST00000375067.7:c.295_302dup	ENSP00000364208.3:p.Arg102ThrfsTer15
ENST00000375069.7:c.337_344dup	ENSP00000364210.4:p.Arg116ThrfsTer15
ENST00000375070.7:c.34_41dup	ENSP00000364211.4:p.Arg15ThrfsTer15
ENST00000375076.8:c.337_344dup	ENSP00000364217.4:p.Arg116ThrfsTer15
ENST00000438221.6:c.337_344dup	ENSP00000387887.2:p.Arg116ThrfsTer15
ENST00000450110.5:c.337_342+2dup
ENST00000484849.5:n.544_551dup
ENST00000538695.2:c.337_344dup	ENSP00000445389.1:p.Arg116ThrfsTer?
ENST00000620802.4:c.282+55_282+62dup	ENSP00000484081.1:n.282+55_282+62dup
NM_001136.4:c.337_344dup	NP_001127.1:p.Arg116ThrfsTer15
NM_001206929.1:c.337_344dup	NP_001193858.1:p.Arg116ThrfsTer15
NM_001206932.1:c.295_302dup	NP_001193861.1:p.Arg102ThrfsTer15
NM_001206934.1:c.337_344dup	NP_001193863.1:p.Arg116ThrfsTer15
NM_001206936.1:c.337_344dup	NP_001193865.1:p.Arg116ThrfsTer15
NM_001206940.1:c.337_344dup	NP_001193869.1:p.Arg116ThrfsTer15
NM_001206954.1:c.337_344dup	NP_001193883.1:p.Arg116ThrfsTer15
NM_001206966.1:c.337_344dup	NP_001193895.1:p.Arg116ThrfsTer15
NM_172197.2:c.295_302dup	NP_751947.1:p.Arg102ThrfsTer15
NR_038190.1:n.620_627dup
XM_017010328.2:c.430_437dup	XP_016865817.1:p.Arg147ThrfsTer15
XR_001743189.2:n.495_502dup
XR_001743190.2:n.495_502dup
NM_001136.5:c.337_344dup MANE Select	NP_001127.1:p.Arg116ThrfsTer15
NM_001206932.2:c.295_302dup	NP_001193861.1:p.Arg102ThrfsTer15
NM_001206936.2:c.337_344dup	NP_001193865.1:p.Arg116ThrfsTer15
NM_001206940.2:c.337_344dup	NP_001193869.1:p.Arg116ThrfsTer15
NM_001206954.2:c.337_344dup	NP_001193883.1:p.Arg116ThrfsTer15
NM_001206966.2:c.337_344dup	NP_001193895.1:p.Arg116ThrfsTer15
NM_172197.3:c.295_302dup	NP_751947.1:p.Arg102ThrfsTer15
NR_038190.2:n.551_558dup
NM_001206929.2:c.337_344dup	NP_001193858.1:p.Arg116ThrfsTer15
NM_001206934.2:c.337_344dup	NP_001193863.1:p.Arg116ThrfsTer15