Canonical Allele Identifier: CA1139656248

Gene: AGL

Linked Data

• ClinVar Variation Id: 966614
• ClinVar RCV Id: RCV001241339
• dbSNP Id: rs1064794512

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881185_99881186delinsCG , CM000663.2:g.99881185_99881186delinsCG	GRCh38
NC_000001.10:g.100346741_100346742delinsCG , CM000663.1:g.100346741_100346742delinsCG	GRCh37
NC_000001.9:g.100119329_100119330delinsCG	NCBI36
NG_012865.1:g.36102_36103delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.2001+8_2001+9delinsCG MANE Select	ENSP00000355106.3:n.2001+8_2001+9delinsCG
ENST00000637337.1:n.2212+8_2212+9delinsCG
ENST00000294724.8:c.2001+8_2001+9delinsCG	ENSP00000294724.4:n.2001+8_2001+9delinsCG
ENST00000361302.7:c.1953+8_1953+9delinsCG	ENSP00000354971.3:n.1953+8_1953+9delinsCG
ENST00000361522.4:c.1950+8_1950+9delinsCG	ENSP00000354635.4:n.1950+8_1950+9delinsCG
ENST00000361915.7:c.2001+8_2001+9delinsCG	ENSP00000355106.3:n.2001+8_2001+9delinsCG
ENST00000370161.6:c.1953+8_1953+9delinsCG	ENSP00000359180.2:n.1953+8_1953+9delinsCG
ENST00000370163.7:c.2001+8_2001+9delinsCG	ENSP00000359182.3:n.2001+8_2001+9delinsCG
ENST00000370165.7:c.2001+8_2001+9delinsCG	ENSP00000359184.3:n.2001+8_2001+9delinsCG
NM_000028.2:c.2001+8_2001+9delinsCG	NP_000019.2:n.2001+8_2001+9delinsCG
NM_000642.2:c.2001+8_2001+9delinsCG	NP_000633.2:n.2001+8_2001+9delinsCG
NM_000643.2:c.2001+8_2001+9delinsCG	NP_000634.2:n.2001+8_2001+9delinsCG
NM_000644.2:c.2001+8_2001+9delinsCG	NP_000635.2:n.2001+8_2001+9delinsCG
NM_000645.2:c.1950+8_1950+9delinsCG	NP_000636.2:n.1950+8_1950+9delinsCG
NM_000646.2:c.1953+8_1953+9delinsCG	NP_000637.2:n.1953+8_1953+9delinsCG
XM_005270557.1:c.2001+8_2001+9delinsCG	XP_005270614.1:n.2001+8_2001+9delinsCG
XM_005270557.2:c.2001+8_2001+9delinsCG	XP_005270614.1:n.2001+8_2001+9delinsCG
XM_017000501.2:c.261+8_261+9delinsCG	XP_016855990.1:n.261+8_261+9delinsCG
NM_000642.3:c.2001+8_2001+9delinsCG MANE Select	NP_000633.2:n.2001+8_2001+9delinsCG