Canonical Allele Identifier: CA2646739542

Gene: AGL

Linked Data

• gnomAD v4: 1-99921561-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921562del , CM000663.2:g.99921562del	GRCh38
NC_000001.10:g.100387118del , CM000663.1:g.100387118del	GRCh37
NC_000001.9:g.100159706del	NCBI36
NG_012865.1:g.76479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4510del MANE Select	ENSP00000355106.3:p.Thr1504ProfsTer?
ENST00000637337.1:n.4721del
ENST00000294724.8:c.4510del	ENSP00000294724.4:p.Thr1504ProfsTer?
ENST00000361302.7:c.4462del	ENSP00000354971.3:p.Thr1488ProfsTer?
ENST00000361522.4:c.4459del	ENSP00000354635.4:p.Thr1487ProfsTer?
ENST00000361915.7:c.4510del	ENSP00000355106.3:p.Thr1504ProfsTer?
ENST00000370161.6:c.4462del	ENSP00000359180.2:p.Thr1488ProfsTer?
ENST00000370163.7:c.4510del	ENSP00000359182.3:p.Thr1504ProfsTer?
ENST00000370165.7:c.4510del	ENSP00000359184.3:p.Thr1504ProfsTer?
NM_000028.2:c.4510del	NP_000019.2:p.Thr1504ProfsTer?
NM_000642.2:c.4510del	NP_000633.2:p.Thr1504ProfsTer?
NM_000643.2:c.4510del	NP_000634.2:p.Thr1504ProfsTer?
NM_000644.2:c.4510del	NP_000635.2:p.Thr1504ProfsTer?
NM_000645.2:c.4459del	NP_000636.2:p.Thr1487ProfsTer?
NM_000646.2:c.4462del	NP_000637.2:p.Thr1488ProfsTer?
XM_005270557.1:c.4510del	XP_005270614.1:p.Thr1504ProfsTer?
XR_947626.1:n.1317+2676del
XR_947627.1:n.1206+2676del
XR_947628.1:n.1311+2676del
XR_947630.1:n.1249+2676del
XR_947632.1:n.1135+2676del
XR_947633.1:n.1246+2676del
XR_947634.1:n.660+2676del
XR_947635.1:n.728+2676del
XM_005270557.2:c.4510del	XP_005270614.1:p.Thr1504ProfsTer?
XM_017000501.2:c.2770del	XP_016855990.1:p.Thr924ProfsTer?
NM_000642.3:c.4510del MANE Select	NP_000633.2:p.Thr1504ProfsTer?