Canonical Allele Identifier: CA114751

Gene: AGL

Linked Data

• ClinVar Variation Id: 1094
• ClinVar RCV Id: RCV000001152 ; RCV000169573 ; RCV001265666
• dbSNP Id: rs387906244
• ExAC: 1:100387136 T / TA
• gnomAD v2: 1-100387136-T-TA
• gnomAD v3: 1-99921580-T-TA
• gnomAD v4: 1-99921580-T-TA
• MyVariant Identifiers: chr1:g.100387137dupA (hg19) ; chr1:g.100387136_100387137insA (hg19) ; chr1:g.99921581dupA (hg38) ; chr1:g.99921580_99921581insA (hg38)
• PubMed: PMID:1374391 ; PMID:8990006 ; PMID:20490926 ; PMID:20648714 ; PMID:23062577 ; PMID:23430490

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921581dup , CM000663.2:g.99921581dup	GRCh38
NC_000001.10:g.100387137dup , CM000663.1:g.100387137dup	GRCh37
NC_000001.9:g.100159725dup	NCBI36
NG_012865.1:g.76498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4529dup MANE Select	ENSP00000355106.3:p.Tyr1510Ter
ENST00000637337.1:n.4740dup
ENST00000294724.8:c.4529dup	ENSP00000294724.4:p.Tyr1510Ter
ENST00000361302.7:c.4481dup	ENSP00000354971.3:p.Tyr1494Ter
ENST00000361522.4:c.4478dup	ENSP00000354635.4:p.Tyr1493Ter
ENST00000361915.7:c.4529dup	ENSP00000355106.3:p.Tyr1510Ter
ENST00000370161.6:c.4481dup	ENSP00000359180.2:p.Tyr1494Ter
ENST00000370163.7:c.4529dup	ENSP00000359182.3:p.Tyr1510Ter
ENST00000370165.7:c.4529dup	ENSP00000359184.3:p.Tyr1510Ter
NM_000028.2:c.4529dup	NP_000019.2:p.Tyr1510Ter
NM_000642.2:c.4529dup	NP_000633.2:p.Tyr1510Ter
NM_000643.2:c.4529dup	NP_000634.2:p.Tyr1510Ter
NM_000644.2:c.4529dup	NP_000635.2:p.Tyr1510Ter
NM_000645.2:c.4478dup	NP_000636.2:p.Tyr1493Ter
NM_000646.2:c.4481dup	NP_000637.2:p.Tyr1494Ter
XM_005270557.1:c.4529dup	XP_005270614.1:p.Tyr1510Ter
XR_947626.1:n.1317+2657dup
XR_947627.1:n.1206+2657dup
XR_947628.1:n.1311+2657dup
XR_947630.1:n.1249+2657dup
XR_947632.1:n.1135+2657dup
XR_947633.1:n.1246+2657dup
XR_947634.1:n.660+2657dup
XR_947635.1:n.728+2657dup
XM_005270557.2:c.4529dup	XP_005270614.1:p.Tyr1510Ter
XM_017000501.2:c.2789dup	XP_016855990.1:p.Tyr930Ter
NM_000642.3:c.4529dup MANE Select	NP_000633.2:p.Tyr1510Ter