Canonical Allele Identifier: CA144020

Gene: AGA

Linked Data

• ClinVar Variation Id: 55944
• ClinVar RCV Id: RCV000049353
• dbSNP Id: rs386833425
• gnomAD v3: 4-177439593-AGTGT-A
• gnomAD v4: 4-177439593-AGTGT-A
• MyVariant Identifiers: chr4:g.178360748_178360751del (hg19) ; chr4:g.177439594_177439597del (hg38)
• PubMed: PMID:11309371

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439600_177439603del , CM000666.2:g.177439600_177439603del	GRCh38
NC_000004.11:g.178360754_178360757del , CM000666.1:g.178360754_178360757del	GRCh37
NC_000004.10:g.178597748_178597751del	NCBI36
NG_011845.2:g.7907_7910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.373_376del MANE Select	ENSP00000264595.2:p.Thr125PhefsTer2
ENST00000264595.6:c.373_376del	ENSP00000264595.2:p.Thr125PhefsTer2
ENST00000502310.5:c.28_31del	ENSP00000423798.1:p.Thr10PhefsTer2
ENST00000506853.5:n.407_410del
ENST00000510635.1:c.69_72del
ENST00000510955.5:n.315+676_315+679del
NM_000027.3:c.373_376del	NP_000018.2:p.Thr125PhefsTer2
NM_001171988.1:c.373_376del	NP_001165459.1:p.Thr125PhefsTer2
NR_033655.1:n.501_504del
XM_006714123.2:c.373_376del	XP_006714186.1:p.Thr125PhefsTer2
XR_001741155.2:n.467_470del
NM_000027.4:c.373_376del MANE Select	NP_000018.2:p.Thr125PhefsTer2
NM_001171988.2:c.373_376del	NP_001165459.1:p.Thr125PhefsTer2
NR_033655.2:n.435_438del