Canonical Allele Identifier: CA524721342

Gene: AGL

Linked Data

• dbSNP Id: rs1216418815
• gnomAD v2: 1-100342083-AGC-A
• gnomAD v4: 1-99876527-AGC-A
• MyVariant Identifiers: chr1:g.100342084_100342085del (hg19) ; chr1:g.99876528_99876529del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99876528_99876529del , CM000663.2:g.99876528_99876529del	GRCh38
NC_000001.10:g.100342084_100342085del , CM000663.1:g.100342084_100342085del	GRCh37
NC_000001.9:g.100114672_100114673del	NCBI36
NG_012865.1:g.31445_31446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1354_1355del MANE Select	ENSP00000355106.3:p.Ala452LeufsTer14
ENST00000637337.1:n.1565_1566del
ENST00000294724.8:c.1354_1355del	ENSP00000294724.4:p.Ala452LeufsTer14
ENST00000361302.7:c.1306_1307del	ENSP00000354971.3:p.Ala436LeufsTer14
ENST00000361522.4:c.1303_1304del	ENSP00000354635.4:p.Ala435LeufsTer14
ENST00000361915.7:c.1354_1355del	ENSP00000355106.3:p.Ala452LeufsTer14
ENST00000370161.6:c.1306_1307del	ENSP00000359180.2:p.Ala436LeufsTer14
ENST00000370163.7:c.1354_1355del	ENSP00000359182.3:p.Ala452LeufsTer14
ENST00000370165.7:c.1354_1355del	ENSP00000359184.3:p.Ala452LeufsTer14
ENST00000477753.1:n.613_614del
NM_000028.2:c.1354_1355del	NP_000019.2:p.Ala452LeufsTer14
NM_000642.2:c.1354_1355del	NP_000633.2:p.Ala452LeufsTer14
NM_000643.2:c.1354_1355del	NP_000634.2:p.Ala452LeufsTer14
NM_000644.2:c.1354_1355del	NP_000635.2:p.Ala452LeufsTer14
NM_000645.2:c.1303_1304del	NP_000636.2:p.Ala435LeufsTer14
NM_000646.2:c.1306_1307del	NP_000637.2:p.Ala436LeufsTer14
XM_005270557.1:c.1354_1355del	XP_005270614.1:p.Ala452LeufsTer14
XM_005270557.2:c.1354_1355del	XP_005270614.1:p.Ala452LeufsTer14
NM_000642.3:c.1354_1355del MANE Select	NP_000633.2:p.Ala452LeufsTer14