Canonical Allele Identifier: CA2580063404

Gene: AGL

Linked Data

• ClinVar Variation Id: 1726669
• ClinVar RCV Id: RCV002310353

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881352_99881355del , CM000663.2:g.99881352_99881355del	GRCh38
NC_000001.10:g.100346908_100346911del , CM000663.1:g.100346908_100346911del	GRCh37
NC_000001.9:g.100119496_100119499del	NCBI36
NG_012865.1:g.36269_36272del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.2062_2065del MANE Select	ENSP00000355106.3:p.Asn688GlnfsTer?
ENST00000637337.1:n.2273_2276del
ENST00000294724.8:c.2062_2065del	ENSP00000294724.4:p.Asn688GlnfsTer?
ENST00000361302.7:c.2014_2017del	ENSP00000354971.3:p.Asn672GlnfsTer?
ENST00000361522.4:c.2011_2014del	ENSP00000354635.4:p.Asn671GlnfsTer?
ENST00000361915.7:c.2062_2065del	ENSP00000355106.3:p.Asn688GlnfsTer?
ENST00000370161.6:c.2014_2017del	ENSP00000359180.2:p.Asn672GlnfsTer?
ENST00000370163.7:c.2062_2065del	ENSP00000359182.3:p.Asn688GlnfsTer?
ENST00000370165.7:c.2062_2065del	ENSP00000359184.3:p.Asn688GlnfsTer?
NM_000028.2:c.2062_2065del	NP_000019.2:p.Asn688GlnfsTer?
NM_000642.2:c.2062_2065del	NP_000633.2:p.Asn688GlnfsTer?
NM_000643.2:c.2062_2065del	NP_000634.2:p.Asn688GlnfsTer?
NM_000644.2:c.2062_2065del	NP_000635.2:p.Asn688GlnfsTer?
NM_000645.2:c.2011_2014del	NP_000636.2:p.Asn671GlnfsTer?
NM_000646.2:c.2014_2017del	NP_000637.2:p.Asn672GlnfsTer?
XM_005270557.1:c.2062_2065del	XP_005270614.1:p.Asn688GlnfsTer?
XM_005270557.2:c.2062_2065del	XP_005270614.1:p.Asn688GlnfsTer?
XM_017000501.2:c.322_325del	XP_016855990.1:p.Asn108GlnfsTer?
NM_000642.3:c.2062_2065del MANE Select	NP_000633.2:p.Asn688GlnfsTer?