Canonical Allele Identifier: CA2573131976

Gene: AGL

Linked Data

• ClinVar Variation Id: 1432258
• ClinVar RCV Id: RCV001981971
• dbSNP Id: rs2101149228

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99880762_99880765dup , CM000663.2:g.99880762_99880765dup	GRCh38
NC_000001.10:g.100346318_100346321dup , CM000663.1:g.100346318_100346321dup	GRCh37
NC_000001.9:g.100118906_100118909dup	NCBI36
NG_012865.1:g.35679_35682dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1866_1869dup MANE Select	ENSP00000355106.3:p.Ile624GlyfsTer5
ENST00000637337.1:n.2077_2080dup
ENST00000294724.8:c.1866_1869dup	ENSP00000294724.4:p.Ile624GlyfsTer5
ENST00000361302.7:c.1818_1821dup	ENSP00000354971.3:p.Ile608GlyfsTer5
ENST00000361522.4:c.1815_1818dup	ENSP00000354635.4:p.Ile607GlyfsTer5
ENST00000361915.7:c.1866_1869dup	ENSP00000355106.3:p.Ile624GlyfsTer5
ENST00000370161.6:c.1818_1821dup	ENSP00000359180.2:p.Ile608GlyfsTer5
ENST00000370163.7:c.1866_1869dup	ENSP00000359182.3:p.Ile624GlyfsTer5
ENST00000370165.7:c.1866_1869dup	ENSP00000359184.3:p.Ile624GlyfsTer5
NM_000028.2:c.1866_1869dup	NP_000019.2:p.Ile624GlyfsTer5
NM_000642.2:c.1866_1869dup	NP_000633.2:p.Ile624GlyfsTer5
NM_000643.2:c.1866_1869dup	NP_000634.2:p.Ile624GlyfsTer5
NM_000644.2:c.1866_1869dup	NP_000635.2:p.Ile624GlyfsTer5
NM_000645.2:c.1815_1818dup	NP_000636.2:p.Ile607GlyfsTer5
NM_000646.2:c.1818_1821dup	NP_000637.2:p.Ile608GlyfsTer5
XM_005270557.1:c.1866_1869dup	XP_005270614.1:p.Ile624GlyfsTer5
XM_005270557.2:c.1866_1869dup	XP_005270614.1:p.Ile624GlyfsTer5
XM_017000501.2:c.126_129dup	XP_016855990.1:p.Ile44GlyfsTer5
NM_000642.3:c.1866_1869dup MANE Select	NP_000633.2:p.Ile624GlyfsTer5