Canonical Allele Identifier: CA2646737087

Gene: AGL

Linked Data

• gnomAD v4: 1-99875469-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99875477del , CM000663.2:g.99875477del	GRCh38
NC_000001.10:g.100341033del , CM000663.1:g.100341033del	GRCh37
NC_000001.9:g.100113621del	NCBI36
NG_012865.1:g.30394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1283+22del MANE Select	ENSP00000355106.3:n.1283+22del
ENST00000637337.1:n.1494+22del
ENST00000294724.8:c.1283+22del	ENSP00000294724.4:n.1283+22del
ENST00000361302.7:c.1235+22del	ENSP00000354971.3:n.1235+22del
ENST00000361522.4:c.1232+22del	ENSP00000354635.4:n.1232+22del
ENST00000361915.7:c.1283+22del	ENSP00000355106.3:n.1283+22del
ENST00000370161.6:c.1235+22del	ENSP00000359180.2:n.1235+22del
ENST00000370163.7:c.1283+22del	ENSP00000359182.3:n.1283+22del
ENST00000370165.7:c.1283+22del	ENSP00000359184.3:n.1283+22del
ENST00000477753.1:n.542+22del
NM_000028.2:c.1283+22del	NP_000019.2:n.1283+22del
NM_000642.2:c.1283+22del	NP_000633.2:n.1283+22del
NM_000643.2:c.1283+22del	NP_000634.2:n.1283+22del
NM_000644.2:c.1283+22del	NP_000635.2:n.1283+22del
NM_000645.2:c.1232+22del	NP_000636.2:n.1232+22del
NM_000646.2:c.1235+22del	NP_000637.2:n.1235+22del
XM_005270557.1:c.1283+22del	XP_005270614.1:n.1283+22del
XM_005270557.2:c.1283+22del	XP_005270614.1:n.1283+22del
NM_000642.3:c.1283+22del MANE Select	NP_000633.2:n.1283+22del