Canonical Allele Identifier: CA110790208

Gene: AGA

Linked Data

• ClinVar Variation Id: 835213
• ClinVar RCV Id: RCV001036043
• dbSNP Id: rs386833425
• gnomAD v2: 4-178360747-AGT-A
• gnomAD v3: 4-177439593-AGT-A
• gnomAD v4: 4-177439593-AGT-A
• MyVariant Identifiers: chr4:g.178360748_178360749del (hg19) ; chr4:g.177439594_177439595del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439602_177439603del , CM000666.2:g.177439602_177439603del	GRCh38
NC_000004.11:g.178360756_178360757del , CM000666.1:g.178360756_178360757del	GRCh37
NC_000004.10:g.178597750_178597751del	NCBI36
NG_011845.2:g.7909_7910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.375_376del MANE Select	ENSP00000264595.2:p.Leu126PhefsTer18
ENST00000264595.6:c.375_376del	ENSP00000264595.2:p.Leu126PhefsTer18
ENST00000502310.5:c.30_31del	ENSP00000423798.1:p.Leu11PhefsTer18
ENST00000506853.5:n.409_410del
ENST00000510635.1:c.71_72del
ENST00000510955.5:n.315+678_315+679del
NM_000027.3:c.375_376del	NP_000018.2:p.Leu126PhefsTer18
NM_001171988.1:c.375_376del	NP_001165459.1:p.Leu126PhefsTer18
NR_033655.1:n.503_504del
XM_006714123.2:c.375_376del	XP_006714186.1:p.Leu126PhefsTer18
XR_001741155.2:n.469_470del
NM_000027.4:c.375_376del MANE Select	NP_000018.2:p.Leu126PhefsTer18
NM_001171988.2:c.375_376del	NP_001165459.1:p.Leu126PhefsTer18
NR_033655.2:n.437_438del