Canonical Allele Identifier: CA524711242

Gene: AGL

Linked Data

• dbSNP Id: rs1287149053
• gnomAD v2: 1-100387232-ATTAC-A
• gnomAD v4: 1-99921676-ATTAC-A
• MyVariant Identifiers: chr1:g.100387233_100387236del (hg19) ; chr1:g.99921677_99921680del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921679_99921682del , CM000663.2:g.99921679_99921682del	GRCh38
NC_000001.10:g.100387235_100387238del , CM000663.1:g.100387235_100387238del	GRCh37
NC_000001.9:g.100159823_100159826del	NCBI36
NG_012865.1:g.76596_76599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.*28_*31del MANE Select	ENSP00000355106.3:n.*28_*31del
ENST00000637337.1:n.4838_4841del
ENST00000294724.8:c.*28_*31del	ENSP00000294724.4:n.*28_*31del
ENST00000361302.7:c.*28_*31del	ENSP00000354971.3:n.*28_*31del
ENST00000361522.4:c.*28_*31del	ENSP00000354635.4:n.*28_*31del
ENST00000361915.7:c.*28_*31del	ENSP00000355106.3:n.*28_*31del
ENST00000370161.6:c.4579_4582del	ENSP00000359180.2:n.4579_4582del
ENST00000370163.7:c.*28_*31del	ENSP00000359182.3:n.*28_*31del
ENST00000370165.7:c.*28_*31del	ENSP00000359184.3:n.*28_*31del
NM_000028.2:c.*28_*31del	NP_000019.2:n.*28_*31del
NM_000642.2:c.*28_*31del	NP_000633.2:n.*28_*31del
NM_000643.2:c.*28_*31del	NP_000634.2:n.*28_*31del
NM_000644.2:c.*28_*31del	NP_000635.2:n.*28_*31del
NM_000645.2:c.*28_*31del	NP_000636.2:n.*28_*31del
NM_000646.2:c.*28_*31del	NP_000637.2:n.*28_*31del
XM_005270557.1:c.*28_*31del	XP_005270614.1:n.*28_*31del
XR_947626.1:n.1317+2558_1317+2561del
XR_947627.1:n.1206+2558_1206+2561del
XR_947628.1:n.1311+2558_1311+2561del
XR_947630.1:n.1249+2558_1249+2561del
XR_947632.1:n.1135+2558_1135+2561del
XR_947633.1:n.1246+2558_1246+2561del
XR_947634.1:n.660+2558_660+2561del
XR_947635.1:n.728+2558_728+2561del
XM_005270557.2:c.*28_*31del	XP_005270614.1:n.*28_*31del
XM_017000501.2:c.*28_*31del	XP_016855990.1:n.*28_*31del
NM_000642.3:c.*28_*31del MANE Select	NP_000633.2:n.*28_*31del