Canonical Allele Identifier: CA2586967005

Gene: AGL

Linked Data

• ClinVar Variation Id: 2733959
• ClinVar RCV Id: RCV003518734

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891689_99891692del , CM000663.2:g.99891689_99891692del	GRCh38
NC_000001.10:g.100357245_100357248del , CM000663.1:g.100357245_100357248del	GRCh37
NC_000001.9:g.100129833_100129836del	NCBI36
NG_012865.1:g.46606_46609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3033_3036del MANE Select	ENSP00000355106.3:p.Ile1012ValfsTer25
ENST00000637337.1:n.3244_3247del
ENST00000294724.8:c.3033_3036del	ENSP00000294724.4:p.Ile1012ValfsTer25
ENST00000361302.7:c.2985_2988del	ENSP00000354971.3:p.Ile996ValfsTer25
ENST00000361522.4:c.2982_2985del	ENSP00000354635.4:p.Ile995ValfsTer25
ENST00000361915.7:c.3033_3036del	ENSP00000355106.3:p.Ile1012ValfsTer25
ENST00000370161.6:c.2985_2988del	ENSP00000359180.2:p.Ile996ValfsTer25
ENST00000370163.7:c.3033_3036del	ENSP00000359182.3:p.Ile1012ValfsTer25
ENST00000370165.7:c.3033_3036del	ENSP00000359184.3:p.Ile1012ValfsTer25
NM_000028.2:c.3033_3036del	NP_000019.2:p.Ile1012ValfsTer25
NM_000642.2:c.3033_3036del	NP_000633.2:p.Ile1012ValfsTer25
NM_000643.2:c.3033_3036del	NP_000634.2:p.Ile1012ValfsTer25
NM_000644.2:c.3033_3036del	NP_000635.2:p.Ile1012ValfsTer25
NM_000645.2:c.2982_2985del	NP_000636.2:p.Ile995ValfsTer25
NM_000646.2:c.2985_2988del	NP_000637.2:p.Ile996ValfsTer25
XM_005270557.1:c.3033_3036del	XP_005270614.1:p.Ile1012ValfsTer25
XM_005270557.2:c.3033_3036del	XP_005270614.1:p.Ile1012ValfsTer25
XM_017000501.2:c.1293_1296del	XP_016855990.1:p.Ile432ValfsTer25
NM_000642.3:c.3033_3036del MANE Select	NP_000633.2:p.Ile1012ValfsTer25