Canonical Allele Identifier: CA524710415

Gene: AGL

Linked Data

• dbSNP Id: rs1159944812
• gnomAD v2: 1-100376451-A-ACAAAATGT
• MyVariant Identifiers: chr1:g.100376451_100376452insCAAAATGT (hg19) ; chr1:g.99910895_99910896insCAAAATGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99910895_99910896insCAAAATGT , CM000663.2:g.99910895_99910896insCAAAATGT	GRCh38
NC_000001.10:g.100376451_100376452insCAAAATGT , CM000663.1:g.100376451_100376452insCAAAATGT	GRCh37
NC_000001.9:g.100149039_100149040insCAAAATGT	NCBI36
NG_012865.1:g.65812_65813insCAAAATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3836+48_3836+49insCAAAATGT MANE Select	ENSP00000355106.3:n.3836+48_3836+49insCAAAATGT
ENST00000637337.1:n.4047+48_4047+49insCAAAATGT
ENST00000294724.8:c.3836+48_3836+49insCAAAATGT	ENSP00000294724.4:n.3836+48_3836+49insCAAAATGT
ENST00000361302.7:c.3788+48_3788+49insCAAAATGT	ENSP00000354971.3:n.3788+48_3788+49insCAAAATGT
ENST00000361522.4:c.3785+48_3785+49insCAAAATGT	ENSP00000354635.4:n.3785+48_3785+49insCAAAATGT
ENST00000361915.7:c.3836+48_3836+49insCAAAATGT	ENSP00000355106.3:n.3836+48_3836+49insCAAAATGT
ENST00000370161.6:c.3788+48_3788+49insCAAAATGT	ENSP00000359180.2:n.3788+48_3788+49insCAAAATGT
ENST00000370163.7:c.3836+48_3836+49insCAAAATGT	ENSP00000359182.3:n.3836+48_3836+49insCAAAATGT
ENST00000370165.7:c.3836+48_3836+49insCAAAATGT	ENSP00000359184.3:n.3836+48_3836+49insCAAAATGT
NM_000028.2:c.3836+48_3836+49insCAAAATGT	NP_000019.2:n.3836+48_3836+49insCAAAATGT
NM_000642.2:c.3836+48_3836+49insCAAAATGT	NP_000633.2:n.3836+48_3836+49insCAAAATGT
NM_000643.2:c.3836+48_3836+49insCAAAATGT	NP_000634.2:n.3836+48_3836+49insCAAAATGT
NM_000644.2:c.3836+48_3836+49insCAAAATGT	NP_000635.2:n.3836+48_3836+49insCAAAATGT
NM_000645.2:c.3785+48_3785+49insCAAAATGT	NP_000636.2:n.3785+48_3785+49insCAAAATGT
NM_000646.2:c.3788+48_3788+49insCAAAATGT	NP_000637.2:n.3788+48_3788+49insCAAAATGT
XM_005270557.1:c.3836+48_3836+49insCAAAATGT	XP_005270614.1:n.3836+48_3836+49insCAAAATGT
XM_005270557.2:c.3836+48_3836+49insCAAAATGT	XP_005270614.1:n.3836+48_3836+49insCAAAATGT
XM_017000501.2:c.2096+48_2096+49insCAAAATGT	XP_016855990.1:n.2096+48_2096+49insCAAAATGT
NM_000642.3:c.3836+48_3836+49insCAAAATGT MANE Select	NP_000633.2:n.3836+48_3836+49insCAAAATGT