Canonical Allele Identifier: CA966629

Gene: AGL

Linked Data

• dbSNP Id: rs755380433
• ExAC: 1:100346611 T / TTTG
• gnomAD v2: 1-100346611-T-TTTG
• MyVariant Identifiers: chr1:g.100346614_100346615insTTG (hg19) ; chr1:g.100346611_100346612insTTG (hg19) ; chr1:g.99881058_99881059insTTG (hg38) ; chr1:g.99881055_99881056insTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881066_99881068dup , CM000663.2:g.99881066_99881068dup	GRCh38
NC_000001.10:g.100346622_100346624dup , CM000663.1:g.100346622_100346624dup	GRCh37
NC_000001.9:g.100119210_100119212dup	NCBI36
NG_012865.1:g.35983_35985dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1900-10_1900-8dup MANE Select	ENSP00000355106.3:n.1900-10_1900-8dup
ENST00000637337.1:n.2111-10_2111-8dup
ENST00000294724.8:c.1900-10_1900-8dup	ENSP00000294724.4:n.1900-10_1900-8dup
ENST00000361302.7:c.1852-10_1852-8dup	ENSP00000354971.3:n.1852-10_1852-8dup
ENST00000361522.4:c.1849-10_1849-8dup	ENSP00000354635.4:n.1849-10_1849-8dup
ENST00000361915.7:c.1900-10_1900-8dup	ENSP00000355106.3:n.1900-10_1900-8dup
ENST00000370161.6:c.1852-10_1852-8dup	ENSP00000359180.2:n.1852-10_1852-8dup
ENST00000370163.7:c.1900-10_1900-8dup	ENSP00000359182.3:n.1900-10_1900-8dup
ENST00000370165.7:c.1900-10_1900-8dup	ENSP00000359184.3:n.1900-10_1900-8dup
NM_000028.2:c.1900-10_1900-8dup	NP_000019.2:n.1900-10_1900-8dup
NM_000642.2:c.1900-10_1900-8dup	NP_000633.2:n.1900-10_1900-8dup
NM_000643.2:c.1900-10_1900-8dup	NP_000634.2:n.1900-10_1900-8dup
NM_000644.2:c.1900-10_1900-8dup	NP_000635.2:n.1900-10_1900-8dup
NM_000645.2:c.1849-10_1849-8dup	NP_000636.2:n.1849-10_1849-8dup
NM_000646.2:c.1852-10_1852-8dup	NP_000637.2:n.1852-10_1852-8dup
XM_005270557.1:c.1900-10_1900-8dup	XP_005270614.1:n.1900-10_1900-8dup
XM_005270557.2:c.1900-10_1900-8dup	XP_005270614.1:n.1900-10_1900-8dup
XM_017000501.2:c.160-10_160-8dup	XP_016855990.1:n.160-10_160-8dup
NM_000642.3:c.1900-10_1900-8dup MANE Select	NP_000633.2:n.1900-10_1900-8dup