Canonical Allele Identifier: CA1183923122

Gene: AGL

Linked Data

• dbSNP Id: rs1650896149

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870489_99870497del , CM000663.2:g.99870489_99870497del	GRCh38
NC_000001.10:g.100336045_100336053del , CM000663.1:g.100336045_100336053del	GRCh37
NC_000001.9:g.100108633_100108641del	NCBI36
NG_012865.1:g.25406_25414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.754_762del MANE Select	ENSP00000355106.3:p.Arg252_Leu254del
ENST00000637337.1:n.965_973del
ENST00000294724.8:c.754_762del	ENSP00000294724.4:p.Arg252_Leu254del
ENST00000361302.7:c.706_714del	ENSP00000354971.3:p.Arg236_Leu238del
ENST00000361522.4:c.703_711del	ENSP00000354635.4:p.Arg235_Leu237del
ENST00000361915.7:c.754_762del	ENSP00000355106.3:p.Arg252_Leu254del
ENST00000370161.6:c.706_714del	ENSP00000359180.2:p.Arg236_Leu238del
ENST00000370163.7:c.754_762del	ENSP00000359182.3:p.Arg252_Leu254del
ENST00000370165.7:c.754_762del	ENSP00000359184.3:p.Arg252_Leu254del
NM_000028.2:c.754_762del	NP_000019.2:p.Arg252_Leu254del
NM_000642.2:c.754_762del	NP_000633.2:p.Arg252_Leu254del
NM_000643.2:c.754_762del	NP_000634.2:p.Arg252_Leu254del
NM_000644.2:c.754_762del	NP_000635.2:p.Arg252_Leu254del
NM_000645.2:c.703_711del	NP_000636.2:p.Arg235_Leu237del
NM_000646.2:c.706_714del	NP_000637.2:p.Arg236_Leu238del
XM_005270557.1:c.754_762del	XP_005270614.1:p.Arg252_Leu254del
XM_005270557.2:c.754_762del	XP_005270614.1:p.Arg252_Leu254del
NM_000642.3:c.754_762del MANE Select	NP_000633.2:p.Arg252_Leu254del