Canonical Allele Identifier: CA524711293

Gene: AGL

Linked Data

• dbSNP Id: rs1262720777
• gnomAD v2: 1-100387531-TAATG-T
• gnomAD v3: 1-99921975-TAATG-T
• gnomAD v4: 1-99921975-TAATG-T
• MyVariant Identifiers: chr1:g.100387532_100387535del (hg19) ; chr1:g.99921976_99921979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921978_99921981del , CM000663.2:g.99921978_99921981del	GRCh38
NC_000001.10:g.100387534_100387537del , CM000663.1:g.100387534_100387537del	GRCh37
NC_000001.9:g.100160122_100160125del	NCBI36
NG_012865.1:g.76895_76898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.*327_*330del MANE Select	ENSP00000355106.3:n.*327_*330del
ENST00000637337.1:n.5137_5140del
ENST00000294724.8:c.*327_*330del	ENSP00000294724.4:n.*327_*330del
ENST00000361302.7:c.*327_*330del	ENSP00000354971.3:n.*327_*330del
ENST00000361522.4:c.*327_*330del	ENSP00000354635.4:n.*327_*330del
ENST00000361915.7:c.*327_*330del	ENSP00000355106.3:n.*327_*330del
ENST00000370161.6:c.4878_4881del	ENSP00000359180.2:n.4878_4881del
ENST00000370163.7:c.*327_*330del	ENSP00000359182.3:n.*327_*330del
ENST00000370165.7:c.*327_*330del	ENSP00000359184.3:n.*327_*330del
NM_000028.2:c.*327_*330del	NP_000019.2:n.*327_*330del
NM_000642.2:c.*327_*330del	NP_000633.2:n.*327_*330del
NM_000643.2:c.*327_*330del	NP_000634.2:n.*327_*330del
NM_000644.2:c.*327_*330del	NP_000635.2:n.*327_*330del
NM_000645.2:c.*327_*330del	NP_000636.2:n.*327_*330del
NM_000646.2:c.*327_*330del	NP_000637.2:n.*327_*330del
XM_005270557.1:c.*327_*330del	XP_005270614.1:n.*327_*330del
XR_947626.1:n.1317+2259_1317+2262del
XR_947627.1:n.1206+2259_1206+2262del
XR_947628.1:n.1311+2259_1311+2262del
XR_947630.1:n.1249+2259_1249+2262del
XR_947632.1:n.1135+2259_1135+2262del
XR_947633.1:n.1246+2259_1246+2262del
XR_947634.1:n.660+2259_660+2262del
XR_947635.1:n.728+2259_728+2262del
XM_005270557.2:c.*327_*330del	XP_005270614.1:n.*327_*330del
XM_017000501.2:c.*327_*330del	XP_016855990.1:n.*327_*330del
NM_000642.3:c.*327_*330del MANE Select	NP_000633.2:n.*327_*330del