Canonical Allele Identifier: CA741024687

Gene: AGL

Linked Data

• dbSNP Id: rs1347985902
• gnomAD v3: 1-99921736-AGTT-A
• gnomAD v4: 1-99921736-AGTT-A
• MyVariant Identifiers: chr1:g.100387293_100387295del (hg19) ; chr1:g.99921737_99921739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921740_99921742del , CM000663.2:g.99921740_99921742del	GRCh38
NC_000001.10:g.100387296_100387298del , CM000663.1:g.100387296_100387298del	GRCh37
NC_000001.9:g.100159884_100159886del	NCBI36
NG_012865.1:g.76657_76659del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.*89_*91del MANE Select	ENSP00000355106.3:n.*89_*91del
ENST00000637337.1:n.4899_4901del
ENST00000294724.8:c.*89_*91del	ENSP00000294724.4:n.*89_*91del
ENST00000361302.7:c.*89_*91del	ENSP00000354971.3:n.*89_*91del
ENST00000361522.4:c.*89_*91del	ENSP00000354635.4:n.*89_*91del
ENST00000361915.7:c.*89_*91del	ENSP00000355106.3:n.*89_*91del
ENST00000370161.6:c.4640_4642del	ENSP00000359180.2:n.4640_4642del
ENST00000370163.7:c.*89_*91del	ENSP00000359182.3:n.*89_*91del
ENST00000370165.7:c.*89_*91del	ENSP00000359184.3:n.*89_*91del
NM_000028.2:c.*89_*91del	NP_000019.2:n.*89_*91del
NM_000642.2:c.*89_*91del	NP_000633.2:n.*89_*91del
NM_000643.2:c.*89_*91del	NP_000634.2:n.*89_*91del
NM_000644.2:c.*89_*91del	NP_000635.2:n.*89_*91del
NM_000645.2:c.*89_*91del	NP_000636.2:n.*89_*91del
NM_000646.2:c.*89_*91del	NP_000637.2:n.*89_*91del
XM_005270557.1:c.*89_*91del	XP_005270614.1:n.*89_*91del
XR_947626.1:n.1317+2499_1317+2501del
XR_947627.1:n.1206+2499_1206+2501del
XR_947628.1:n.1311+2499_1311+2501del
XR_947630.1:n.1249+2499_1249+2501del
XR_947632.1:n.1135+2499_1135+2501del
XR_947633.1:n.1246+2499_1246+2501del
XR_947634.1:n.660+2499_660+2501del
XR_947635.1:n.728+2499_728+2501del
XM_005270557.2:c.*89_*91del	XP_005270614.1:n.*89_*91del
XM_017000501.2:c.*89_*91del	XP_016855990.1:n.*89_*91del
NM_000642.3:c.*89_*91del MANE Select	NP_000633.2:n.*89_*91del