Canonical Allele Identifier: CA524711218

Gene: AGL

Linked Data

• dbSNP Id: rs1470542536
• gnomAD v2: 1-100387061-CT-C
• gnomAD v3: 1-99921505-CT-C
• gnomAD v4: 1-99921505-CT-C
• MyVariant Identifiers: chr1:g.100387062del (hg19) ; chr1:g.99921506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921508del , CM000663.2:g.99921508del	GRCh38
NC_000001.10:g.100387064del , CM000663.1:g.100387064del	GRCh37
NC_000001.9:g.100159652del	NCBI36
NG_012865.1:g.76425del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.4482-26del MANE Select	ENSP00000355106.3:n.4482-26del
ENST00000637337.1:n.4693-26del
ENST00000294724.8:c.4482-26del	ENSP00000294724.4:n.4482-26del
ENST00000361302.7:c.4434-26del	ENSP00000354971.3:n.4434-26del
ENST00000361522.4:c.4431-26del	ENSP00000354635.4:n.4431-26del
ENST00000361915.7:c.4482-26del	ENSP00000355106.3:n.4482-26del
ENST00000370161.6:c.4434-26del	ENSP00000359180.2:n.4434-26del
ENST00000370163.7:c.4482-26del	ENSP00000359182.3:n.4482-26del
ENST00000370165.7:c.4482-26del	ENSP00000359184.3:n.4482-26del
NM_000028.2:c.4482-26del	NP_000019.2:n.4482-26del
NM_000642.2:c.4482-26del	NP_000633.2:n.4482-26del
NM_000643.2:c.4482-26del	NP_000634.2:n.4482-26del
NM_000644.2:c.4482-26del	NP_000635.2:n.4482-26del
NM_000645.2:c.4431-26del	NP_000636.2:n.4431-26del
NM_000646.2:c.4434-26del	NP_000637.2:n.4434-26del
XM_005270557.1:c.4482-26del	XP_005270614.1:n.4482-26del
XR_947626.1:n.1317+2732del
XR_947627.1:n.1206+2732del
XR_947628.1:n.1311+2732del
XR_947630.1:n.1249+2732del
XR_947632.1:n.1135+2732del
XR_947633.1:n.1246+2732del
XR_947634.1:n.660+2732del
XR_947635.1:n.728+2732del
XM_005270557.2:c.4482-26del	XP_005270614.1:n.4482-26del
XM_017000501.2:c.2742-26del	XP_016855990.1:n.2742-26del
NM_000642.3:c.4482-26del MANE Select	NP_000633.2:n.4482-26del