Canonical Allele Identifier: CA524711223

Gene: AGL

Linked Data

• dbSNP Id: rs1201910445
• gnomAD v2: 1-100387196-T-TACAAAGAC
• MyVariant Identifiers: chr1:g.100387196_100387197insACAAAGAC (hg19) ; chr1:g.99921640_99921641insACAAAGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921641_99921642insCAAAGACA , CM000663.2:g.99921641_99921642insCAAAGACA	GRCh38
NC_000001.10:g.100387197_100387198insCAAAGACA , CM000663.1:g.100387197_100387198insCAAAGACA	GRCh37
NC_000001.9:g.100159785_100159786insCAAAGACA	NCBI36
NG_012865.1:g.76558_76559insCAAAGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4589_4590insCAAAGACA MANE Select	ENSP00000355106.3:p.Asp1531LysfsTer19
ENST00000637337.1:n.4800_4801insCAAAGACA
ENST00000294724.8:c.4589_4590insCAAAGACA	ENSP00000294724.4:p.Asp1531LysfsTer19
ENST00000361302.7:c.4541_4542insCAAAGACA	ENSP00000354971.3:p.Asp1515LysfsTer19
ENST00000361522.4:c.4538_4539insCAAAGACA	ENSP00000354635.4:p.Asp1514LysfsTer19
ENST00000361915.7:c.4589_4590insCAAAGACA	ENSP00000355106.3:p.Asp1531LysfsTer19
ENST00000370161.6:c.4541_4542insCAAAGACA	ENSP00000359180.2:p.Asp1515LysfsTer19
ENST00000370163.7:c.4589_4590insCAAAGACA	ENSP00000359182.3:p.Asp1531LysfsTer19
ENST00000370165.7:c.4589_4590insCAAAGACA	ENSP00000359184.3:p.Asp1531LysfsTer19
NM_000028.2:c.4589_4590insCAAAGACA	NP_000019.2:p.Asp1531LysfsTer19
NM_000642.2:c.4589_4590insCAAAGACA	NP_000633.2:p.Asp1531LysfsTer19
NM_000643.2:c.4589_4590insCAAAGACA	NP_000634.2:p.Asp1531LysfsTer19
NM_000644.2:c.4589_4590insCAAAGACA	NP_000635.2:p.Asp1531LysfsTer19
NM_000645.2:c.4538_4539insCAAAGACA	NP_000636.2:p.Asp1514LysfsTer19
NM_000646.2:c.4541_4542insCAAAGACA	NP_000637.2:p.Asp1515LysfsTer19
XM_005270557.1:c.4589_4590insCAAAGACA	XP_005270614.1:p.Asp1531LysfsTer19
XR_947626.1:n.1317+2597_1317+2598insGTCTTTGT
XR_947627.1:n.1206+2597_1206+2598insGTCTTTGT
XR_947628.1:n.1311+2597_1311+2598insGTCTTTGT
XR_947630.1:n.1249+2597_1249+2598insGTCTTTGT
XR_947632.1:n.1135+2597_1135+2598insGTCTTTGT
XR_947633.1:n.1246+2597_1246+2598insGTCTTTGT
XR_947634.1:n.660+2597_660+2598insGTCTTTGT
XR_947635.1:n.728+2597_728+2598insGTCTTTGT
XM_005270557.2:c.4589_4590insCAAAGACA	XP_005270614.1:p.Asp1531LysfsTer19
XM_017000501.2:c.2849_2850insCAAAGACA	XP_016855990.1:p.Asp951LysfsTer19
NM_000642.3:c.4589_4590insCAAAGACA MANE Select	NP_000633.2:p.Asp1531LysfsTer19