Canonical Allele Identifier: CA741023758

Gene: AGL

Linked Data

• dbSNP Id: rs1256560053
• gnomAD v3: 1-99870690-G-GTA
• gnomAD v4: 1-99870690-G-GTA
• MyVariant Identifiers: chr1:g.100336246_100336247insTA (hg19) ; chr1:g.99870690_99870691insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870692_99870693dup , CM000663.2:g.99870692_99870693dup	GRCh38
NC_000001.10:g.100336248_100336249dup , CM000663.1:g.100336248_100336249dup	GRCh37
NC_000001.9:g.100108836_100108837dup	NCBI36
NG_012865.1:g.25609_25610dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.847-66_847-65dup MANE Select	ENSP00000355106.3:n.847-66_847-65dup
ENST00000637337.1:n.1058-66_1058-65dup
ENST00000294724.8:c.847-66_847-65dup	ENSP00000294724.4:n.847-66_847-65dup
ENST00000361302.7:c.799-66_799-65dup	ENSP00000354971.3:n.799-66_799-65dup
ENST00000361522.4:c.796-66_796-65dup	ENSP00000354635.4:n.796-66_796-65dup
ENST00000361915.7:c.847-66_847-65dup	ENSP00000355106.3:n.847-66_847-65dup
ENST00000370161.6:c.799-66_799-65dup	ENSP00000359180.2:n.799-66_799-65dup
ENST00000370163.7:c.847-66_847-65dup	ENSP00000359182.3:n.847-66_847-65dup
ENST00000370165.7:c.847-66_847-65dup	ENSP00000359184.3:n.847-66_847-65dup
NM_000028.2:c.847-66_847-65dup	NP_000019.2:n.847-66_847-65dup
NM_000642.2:c.847-66_847-65dup	NP_000633.2:n.847-66_847-65dup
NM_000643.2:c.847-66_847-65dup	NP_000634.2:n.847-66_847-65dup
NM_000644.2:c.847-66_847-65dup	NP_000635.2:n.847-66_847-65dup
NM_000645.2:c.796-66_796-65dup	NP_000636.2:n.796-66_796-65dup
NM_000646.2:c.799-66_799-65dup	NP_000637.2:n.799-66_799-65dup
XM_005270557.1:c.847-66_847-65dup	XP_005270614.1:n.847-66_847-65dup
XM_005270557.2:c.847-66_847-65dup	XP_005270614.1:n.847-66_847-65dup
NM_000642.3:c.847-66_847-65dup MANE Select	NP_000633.2:n.847-66_847-65dup