Canonical Allele Identifier: CA741024721

Gene: AGL

Linked Data

• dbSNP Id: rs1352440016
• gnomAD v4: 1-99921850-TATC-T
• MyVariant Identifiers: chr1:g.100387407_100387409del (hg19) ; chr1:g.99921851_99921853del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921853_99921855del , CM000663.2:g.99921853_99921855del	GRCh38
NC_000001.10:g.100387409_100387411del , CM000663.1:g.100387409_100387411del	GRCh37
NC_000001.9:g.100159997_100159999del	NCBI36
NG_012865.1:g.76770_76772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.*202_*204del MANE Select	ENSP00000355106.3:n.*202_*204del
ENST00000637337.1:n.5012_5014del
ENST00000294724.8:c.*202_*204del	ENSP00000294724.4:n.*202_*204del
ENST00000361302.7:c.*202_*204del	ENSP00000354971.3:n.*202_*204del
ENST00000361522.4:c.*202_*204del	ENSP00000354635.4:n.*202_*204del
ENST00000361915.7:c.*202_*204del	ENSP00000355106.3:n.*202_*204del
ENST00000370161.6:c.4753_4755del	ENSP00000359180.2:n.4753_4755del
ENST00000370163.7:c.*202_*204del	ENSP00000359182.3:n.*202_*204del
ENST00000370165.7:c.*202_*204del	ENSP00000359184.3:n.*202_*204del
NM_000028.2:c.*202_*204del	NP_000019.2:n.*202_*204del
NM_000642.2:c.*202_*204del	NP_000633.2:n.*202_*204del
NM_000643.2:c.*202_*204del	NP_000634.2:n.*202_*204del
NM_000644.2:c.*202_*204del	NP_000635.2:n.*202_*204del
NM_000645.2:c.*202_*204del	NP_000636.2:n.*202_*204del
NM_000646.2:c.*202_*204del	NP_000637.2:n.*202_*204del
XM_005270557.1:c.*202_*204del	XP_005270614.1:n.*202_*204del
XR_947626.1:n.1317+2385_1317+2387del
XR_947627.1:n.1206+2385_1206+2387del
XR_947628.1:n.1311+2385_1311+2387del
XR_947630.1:n.1249+2385_1249+2387del
XR_947632.1:n.1135+2385_1135+2387del
XR_947633.1:n.1246+2385_1246+2387del
XR_947634.1:n.660+2385_660+2387del
XR_947635.1:n.728+2385_728+2387del
XM_005270557.2:c.*202_*204del	XP_005270614.1:n.*202_*204del
XM_017000501.2:c.*202_*204del	XP_016855990.1:n.*202_*204del
NM_000642.3:c.*202_*204del MANE Select	NP_000633.2:n.*202_*204del