Canonical Allele Identifier: CA2586967082

Gene: AGL

Linked Data

• ClinVar Variation Id: 2681006
• ClinVar RCV Id: RCV003475799

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99876472_99876473del , CM000663.2:g.99876472_99876473del	GRCh38
NC_000001.10:g.100342028_100342029del , CM000663.1:g.100342028_100342029del	GRCh37
NC_000001.9:g.100114616_100114617del	NCBI36
NG_012865.1:g.31389_31390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1298_1299del MANE Select	ENSP00000355106.3:p.Pro433LeufsTer2
ENST00000637337.1:n.1509_1510del
ENST00000294724.8:c.1298_1299del	ENSP00000294724.4:p.Pro433LeufsTer2
ENST00000361302.7:c.1250_1251del	ENSP00000354971.3:p.Pro417LeufsTer2
ENST00000361522.4:c.1247_1248del	ENSP00000354635.4:p.Pro416LeufsTer2
ENST00000361915.7:c.1298_1299del	ENSP00000355106.3:p.Pro433LeufsTer2
ENST00000370161.6:c.1250_1251del	ENSP00000359180.2:p.Pro417LeufsTer2
ENST00000370163.7:c.1298_1299del	ENSP00000359182.3:p.Pro433LeufsTer2
ENST00000370165.7:c.1298_1299del	ENSP00000359184.3:p.Pro433LeufsTer2
ENST00000477753.1:n.557_558del
NM_000028.2:c.1298_1299del	NP_000019.2:p.Pro433LeufsTer2
NM_000642.2:c.1298_1299del	NP_000633.2:p.Pro433LeufsTer2
NM_000643.2:c.1298_1299del	NP_000634.2:p.Pro433LeufsTer2
NM_000644.2:c.1298_1299del	NP_000635.2:p.Pro433LeufsTer2
NM_000645.2:c.1247_1248del	NP_000636.2:p.Pro416LeufsTer2
NM_000646.2:c.1250_1251del	NP_000637.2:p.Pro417LeufsTer2
XM_005270557.1:c.1298_1299del	XP_005270614.1:p.Pro433LeufsTer2
XM_005270557.2:c.1298_1299del	XP_005270614.1:p.Pro433LeufsTer2
NM_000642.3:c.1298_1299del MANE Select	NP_000633.2:p.Pro433LeufsTer2