Canonical Allele Identifier: CA741026923

Gene: AGL

Linked Data

• dbSNP Id: rs1425008804
• gnomAD v3: 1-99874978-TG-T
• gnomAD v4: 1-99874978-TG-T
• MyVariant Identifiers: chr1:g.100340535del (hg19) ; chr1:g.99874979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99874981del , CM000663.2:g.99874981del	GRCh38
NC_000001.10:g.100340537del , CM000663.1:g.100340537del	GRCh37
NC_000001.9:g.100113125del	NCBI36
NG_012865.1:g.29898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1082+171del MANE Select	ENSP00000355106.3:n.1082+171del
ENST00000637337.1:n.1293+171del
ENST00000294724.8:c.1082+171del	ENSP00000294724.4:n.1082+171del
ENST00000361302.7:c.1034+171del	ENSP00000354971.3:n.1034+171del
ENST00000361522.4:c.1031+171del	ENSP00000354635.4:n.1031+171del
ENST00000361915.7:c.1082+171del	ENSP00000355106.3:n.1082+171del
ENST00000370161.6:c.1034+171del	ENSP00000359180.2:n.1034+171del
ENST00000370163.7:c.1082+171del	ENSP00000359182.3:n.1082+171del
ENST00000370165.7:c.1082+171del	ENSP00000359184.3:n.1082+171del
ENST00000477753.1:n.341+171del
NM_000028.2:c.1082+171del	NP_000019.2:n.1082+171del
NM_000642.2:c.1082+171del	NP_000633.2:n.1082+171del
NM_000643.2:c.1082+171del	NP_000634.2:n.1082+171del
NM_000644.2:c.1082+171del	NP_000635.2:n.1082+171del
NM_000645.2:c.1031+171del	NP_000636.2:n.1031+171del
NM_000646.2:c.1034+171del	NP_000637.2:n.1034+171del
XM_005270557.1:c.1082+171del	XP_005270614.1:n.1082+171del
XM_005270557.2:c.1082+171del	XP_005270614.1:n.1082+171del
NM_000642.3:c.1082+171del MANE Select	NP_000633.2:n.1082+171del