Canonical Allele Identifier: CA27564746

Gene: AGL

Linked Data

• dbSNP Id: rs765857222
• gnomAD v2: 1-100387492-ATCT-A
• gnomAD v3: 1-99921936-ATCT-A
• gnomAD v4: 1-99921936-ATCT-A
• MyVariant Identifiers: chr1:g.100387493_100387495del (hg19) ; chr1:g.99921937_99921939del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921940_99921942del , CM000663.2:g.99921940_99921942del	GRCh38
NC_000001.10:g.100387496_100387498del , CM000663.1:g.100387496_100387498del	GRCh37
NC_000001.9:g.100160084_100160086del	NCBI36
NG_012865.1:g.76857_76859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.*289_*291del MANE Select	ENSP00000355106.3:n.*289_*291del
ENST00000637337.1:n.5099_5101del
ENST00000294724.8:c.*289_*291del	ENSP00000294724.4:n.*289_*291del
ENST00000361302.7:c.*289_*291del	ENSP00000354971.3:n.*289_*291del
ENST00000361522.4:c.*289_*291del	ENSP00000354635.4:n.*289_*291del
ENST00000361915.7:c.*289_*291del	ENSP00000355106.3:n.*289_*291del
ENST00000370161.6:c.4840_4842del	ENSP00000359180.2:n.4840_4842del
ENST00000370163.7:c.*289_*291del	ENSP00000359182.3:n.*289_*291del
ENST00000370165.7:c.*289_*291del	ENSP00000359184.3:n.*289_*291del
NM_000028.2:c.*289_*291del	NP_000019.2:n.*289_*291del
NM_000642.2:c.*289_*291del	NP_000633.2:n.*289_*291del
NM_000643.2:c.*289_*291del	NP_000634.2:n.*289_*291del
NM_000644.2:c.*289_*291del	NP_000635.2:n.*289_*291del
NM_000645.2:c.*289_*291del	NP_000636.2:n.*289_*291del
NM_000646.2:c.*289_*291del	NP_000637.2:n.*289_*291del
XM_005270557.1:c.*289_*291del	XP_005270614.1:n.*289_*291del
XR_947626.1:n.1317+2299_1317+2301del
XR_947627.1:n.1206+2299_1206+2301del
XR_947628.1:n.1311+2299_1311+2301del
XR_947630.1:n.1249+2299_1249+2301del
XR_947632.1:n.1135+2299_1135+2301del
XR_947633.1:n.1246+2299_1246+2301del
XR_947634.1:n.660+2299_660+2301del
XR_947635.1:n.728+2299_728+2301del
XM_005270557.2:c.*289_*291del	XP_005270614.1:n.*289_*291del
XM_017000501.2:c.*289_*291del	XP_016855990.1:n.*289_*291del
NM_000642.3:c.*289_*291del MANE Select	NP_000633.2:n.*289_*291del