Canonical Allele Identifier: CA27564740

Gene: AGL

Linked Data

• dbSNP Id: rs1048530851
• gnomAD v2: 1-100387465-CAT-C
• gnomAD v3: 1-99921909-CAT-C
• gnomAD v4: 1-99921909-CAT-C
• MyVariant Identifiers: chr1:g.100387466_100387467del (hg19) ; chr1:g.99921910_99921911del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921911_99921912del , CM000663.2:g.99921911_99921912del	GRCh38
NC_000001.10:g.100387467_100387468del , CM000663.1:g.100387467_100387468del	GRCh37
NC_000001.9:g.100160055_100160056del	NCBI36
NG_012865.1:g.76828_76829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.*260_*261del MANE Select	ENSP00000355106.3:n.*260_*261del
ENST00000637337.1:n.5070_5071del
ENST00000294724.8:c.*260_*261del	ENSP00000294724.4:n.*260_*261del
ENST00000361302.7:c.*260_*261del	ENSP00000354971.3:n.*260_*261del
ENST00000361522.4:c.*260_*261del	ENSP00000354635.4:n.*260_*261del
ENST00000361915.7:c.*260_*261del	ENSP00000355106.3:n.*260_*261del
ENST00000370161.6:c.4811_4812del	ENSP00000359180.2:n.4811_4812del
ENST00000370163.7:c.*260_*261del	ENSP00000359182.3:n.*260_*261del
ENST00000370165.7:c.*260_*261del	ENSP00000359184.3:n.*260_*261del
NM_000028.2:c.*260_*261del	NP_000019.2:n.*260_*261del
NM_000642.2:c.*260_*261del	NP_000633.2:n.*260_*261del
NM_000643.2:c.*260_*261del	NP_000634.2:n.*260_*261del
NM_000644.2:c.*260_*261del	NP_000635.2:n.*260_*261del
NM_000645.2:c.*260_*261del	NP_000636.2:n.*260_*261del
NM_000646.2:c.*260_*261del	NP_000637.2:n.*260_*261del
XM_005270557.1:c.*260_*261del	XP_005270614.1:n.*260_*261del
XR_947626.1:n.1317+2327_1317+2328del
XR_947627.1:n.1206+2327_1206+2328del
XR_947628.1:n.1311+2327_1311+2328del
XR_947630.1:n.1249+2327_1249+2328del
XR_947632.1:n.1135+2327_1135+2328del
XR_947633.1:n.1246+2327_1246+2328del
XR_947634.1:n.660+2327_660+2328del
XR_947635.1:n.728+2327_728+2328del
XM_005270557.2:c.*260_*261del	XP_005270614.1:n.*260_*261del
XM_017000501.2:c.*260_*261del	XP_016855990.1:n.*260_*261del
NM_000642.3:c.*260_*261del MANE Select	NP_000633.2:n.*260_*261del