Canonical Allele Identifier: CA524709838

Gene: AGL

Linked Data

• dbSNP Id: rs1267601920
• gnomAD v2: 1-100368191-GA-G
• gnomAD v3: 1-99902635-GA-G
• gnomAD v4: 1-99902635-GA-G
• MyVariant Identifiers: chr1:g.100368192del (hg19) ; chr1:g.99902636del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99902640del , CM000663.2:g.99902640del	GRCh38
NC_000001.10:g.100368196del , CM000663.1:g.100368196del	GRCh37
NC_000001.9:g.100140784del	NCBI36
NG_012865.1:g.57557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3589-43del MANE Select	ENSP00000355106.3:n.3589-43del
ENST00000637337.1:n.3800-43del
ENST00000294724.8:c.3589-43del	ENSP00000294724.4:n.3589-43del
ENST00000361302.7:c.3541-43del	ENSP00000354971.3:n.3541-43del
ENST00000361522.4:c.3538-43del	ENSP00000354635.4:n.3538-43del
ENST00000361915.7:c.3589-43del	ENSP00000355106.3:n.3589-43del
ENST00000370161.6:c.3541-43del	ENSP00000359180.2:n.3541-43del
ENST00000370163.7:c.3589-43del	ENSP00000359182.3:n.3589-43del
ENST00000370165.7:c.3589-43del	ENSP00000359184.3:n.3589-43del
NM_000028.2:c.3589-43del	NP_000019.2:n.3589-43del
NM_000642.2:c.3589-43del	NP_000633.2:n.3589-43del
NM_000643.2:c.3589-43del	NP_000634.2:n.3589-43del
NM_000644.2:c.3589-43del	NP_000635.2:n.3589-43del
NM_000645.2:c.3538-43del	NP_000636.2:n.3538-43del
NM_000646.2:c.3541-43del	NP_000637.2:n.3541-43del
XM_005270557.1:c.3589-43del	XP_005270614.1:n.3589-43del
XM_005270557.2:c.3589-43del	XP_005270614.1:n.3589-43del
XM_017000501.2:c.1849-43del	XP_016855990.1:n.1849-43del
NM_000642.3:c.3589-43del MANE Select	NP_000633.2:n.3589-43del