Canonical Allele Identifier: CA3147015
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs747908061
ExAC: 4:178361619 AT / A
gnomAD v2: 4-178361619-AT-A
gnomAD v3: 4-177440465-AT-A
gnomAD v4: 4-177440465-AT-A
COSMIC: COSN18728583 COSN18728639
MyVariant Identifiers: chr4:g.178361621del (hg19) chr4:g.178361620del (hg19) chr4:g.177440467del (hg38) chr4:g.177440466del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440474del , CM000666.2:g.177440474del GRCh38
NC_000004.11:g.178361628del , CM000666.1:g.178361628del GRCh37
NC_000004.10:g.178598622del NCBI36
NG_011845.2:g.7038del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-40del MANE Select ENSP00000264595.2:n.128-40del
ENST00000264595.6:c.128-40del ENSP00000264595.2:n.128-40del
ENST00000506853.5:n.162-40del
ENST00000510955.5:n.162-40del
ENST00000511231.1:n.162-40del
NM_000027.3:c.128-40del NP_000018.2:n.128-40del
NM_001171988.1:c.128-40del NP_001165459.1:n.128-40del
NR_033655.1:n.256-40del
XM_006714123.2:c.128-40del XP_006714186.1:n.128-40del
XR_001741155.2:n.222-40del
NM_000027.4:c.128-40del MANE Select NP_000018.2:n.128-40del
NM_001171988.2:c.128-40del NP_001165459.1:n.128-40del
NR_033655.2:n.190-40del
Search 100 bp 5'
Search 100 bp 3'