Canonical Allele Identifier: CA658821101

Gene: AGL

Linked Data

• ClinVar Variation Id: 556204
• ClinVar RCV Id: RCV000672173
• dbSNP Id: rs1553193523
• MyVariant Identifiers: chr1:g.99916715_99916717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99916715_99916717del , CM000663.2:g.99916715_99916717del	GRCh38
NC_000001.10:g.100382271_100382273del , CM000663.1:g.100382271_100382273del	GRCh37
NC_000001.9:g.100154859_100154861del	NCBI36
NG_012865.1:g.71632_71634del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.4465_4467del MANE Select	ENSP00000355106.3:p.Tyr1489del
ENST00000637337.1:n.4676_4678del
ENST00000294724.8:c.4465_4467del	ENSP00000294724.4:p.Tyr1489del
ENST00000361302.7:c.4417_4419del	ENSP00000354971.3:p.Tyr1473del
ENST00000361522.4:c.4414_4416del	ENSP00000354635.4:p.Tyr1472del
ENST00000361915.7:c.4465_4467del	ENSP00000355106.3:p.Tyr1489del
ENST00000370161.6:c.4417_4419del	ENSP00000359180.2:p.Tyr1473del
ENST00000370163.7:c.4465_4467del	ENSP00000359182.3:p.Tyr1489del
ENST00000370165.7:c.4465_4467del	ENSP00000359184.3:p.Tyr1489del
NM_000028.2:c.4465_4467del	NP_000019.2:p.Tyr1489del
NM_000642.2:c.4465_4467del	NP_000633.2:p.Tyr1489del
NM_000643.2:c.4465_4467del	NP_000634.2:p.Tyr1489del
NM_000644.2:c.4465_4467del	NP_000635.2:p.Tyr1489del
NM_000645.2:c.4414_4416del	NP_000636.2:p.Tyr1472del
NM_000646.2:c.4417_4419del	NP_000637.2:p.Tyr1473del
XM_005270557.1:c.4465_4467del	XP_005270614.1:p.Tyr1489del
XR_947626.1:n.1318-3498_1318-3496del
XR_947627.1:n.1207-3498_1207-3496del
XR_947628.1:n.1312-3498_1312-3496del
XR_947630.1:n.1250-3498_1250-3496del
XR_947632.1:n.1136-3498_1136-3496del
XR_947633.1:n.1247-3498_1247-3496del
XR_947634.1:n.661-3498_661-3496del
XR_947635.1:n.729-3498_729-3496del
XM_005270557.2:c.4465_4467del	XP_005270614.1:p.Tyr1489del
XM_017000501.2:c.2725_2727del	XP_016855990.1:p.Tyr909del
NM_000642.3:c.4465_4467del MANE Select	NP_000633.2:p.Tyr1489del