Canonical Allele Identifier: CA524709171

Gene: AGL

Linked Data

• ClinVar Variation Id: 558267
• ClinVar RCV Id: RCV000674508
• dbSNP Id: rs1432024176
• gnomAD v2: 1-100361931-T-TA
• gnomAD v3: 1-99896375-T-TA
• gnomAD v4: 1-99896375-T-TA
• MyVariant Identifiers: chr1:g.100361931_100361932insA (hg19) ; chr1:g.99896376dup (hg38) ; chr1:g.99896375_99896376insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99896376dup , CM000663.2:g.99896376dup	GRCh38
NC_000001.10:g.100361932dup , CM000663.1:g.100361932dup	GRCh37
NC_000001.9:g.100134520dup	NCBI36
NG_012865.1:g.51293dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3350dup MANE Select	ENSP00000355106.3:p.Tyr1117Ter
ENST00000637337.1:n.3561dup
ENST00000294724.8:c.3350dup	ENSP00000294724.4:p.Tyr1117Ter
ENST00000361302.7:c.3302dup	ENSP00000354971.3:p.Tyr1101Ter
ENST00000361522.4:c.3299dup	ENSP00000354635.4:p.Tyr1100Ter
ENST00000361915.7:c.3350dup	ENSP00000355106.3:p.Tyr1117Ter
ENST00000370161.6:c.3302dup	ENSP00000359180.2:p.Tyr1101Ter
ENST00000370163.7:c.3350dup	ENSP00000359182.3:p.Tyr1117Ter
ENST00000370165.7:c.3350dup	ENSP00000359184.3:p.Tyr1117Ter
NM_000028.2:c.3350dup	NP_000019.2:p.Tyr1117Ter
NM_000642.2:c.3350dup	NP_000633.2:p.Tyr1117Ter
NM_000643.2:c.3350dup	NP_000634.2:p.Tyr1117Ter
NM_000644.2:c.3350dup	NP_000635.2:p.Tyr1117Ter
NM_000645.2:c.3299dup	NP_000636.2:p.Tyr1100Ter
NM_000646.2:c.3302dup	NP_000637.2:p.Tyr1101Ter
XM_005270557.1:c.3350dup	XP_005270614.1:p.Tyr1117Ter
XM_005270557.2:c.3350dup	XP_005270614.1:p.Tyr1117Ter
XM_017000501.2:c.1610dup	XP_016855990.1:p.Tyr537Ter
NM_000642.3:c.3350dup MANE Select	NP_000633.2:p.Tyr1117Ter