Canonical Allele Identifier: CA2697552539

Gene: AGL

Linked Data

• ClinVar Variation Id: 2741058
• ClinVar RCV Id: RCV003516694

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870530del , CM000663.2:g.99870530del	GRCh38
NC_000001.10:g.100336086del , CM000663.1:g.100336086del	GRCh37
NC_000001.9:g.100108674del	NCBI36
NG_012865.1:g.25447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.795del MANE Select	ENSP00000355106.3:p.Lys265AsnfsTer10
ENST00000637337.1:n.1006del
ENST00000294724.8:c.795del	ENSP00000294724.4:p.Lys265AsnfsTer10
ENST00000361302.7:c.747del	ENSP00000354971.3:p.Lys249AsnfsTer10
ENST00000361522.4:c.744del	ENSP00000354635.4:p.Lys248AsnfsTer10
ENST00000361915.7:c.795del	ENSP00000355106.3:p.Lys265AsnfsTer10
ENST00000370161.6:c.747del	ENSP00000359180.2:p.Lys249AsnfsTer10
ENST00000370163.7:c.795del	ENSP00000359182.3:p.Lys265AsnfsTer10
ENST00000370165.7:c.795del	ENSP00000359184.3:p.Lys265AsnfsTer10
NM_000028.2:c.795del	NP_000019.2:p.Lys265AsnfsTer10
NM_000642.2:c.795del	NP_000633.2:p.Lys265AsnfsTer10
NM_000643.2:c.795del	NP_000634.2:p.Lys265AsnfsTer10
NM_000644.2:c.795del	NP_000635.2:p.Lys265AsnfsTer10
NM_000645.2:c.744del	NP_000636.2:p.Lys248AsnfsTer10
NM_000646.2:c.747del	NP_000637.2:p.Lys249AsnfsTer10
XM_005270557.1:c.795del	XP_005270614.1:p.Lys265AsnfsTer10
XM_005270557.2:c.795del	XP_005270614.1:p.Lys265AsnfsTer10
NM_000642.3:c.795del MANE Select	NP_000633.2:p.Lys265AsnfsTer10