Canonical Allele Identifier: CA110789642
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs150633580
gnomAD v4: 4-177438718-AT-A
MyVariant Identifiers: chr4:g.178359873del (hg19) chr4:g.177438719del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438725del , CM000666.2:g.177438725del GRCh38
NC_000004.11:g.178359879del , CM000666.1:g.178359879del GRCh37
NC_000004.10:g.178596873del NCBI36
NG_011845.2:g.8785del

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.507+26del MANE Select ENSP00000264595.2:n.507+26del
ENST00000264595.6:c.507+26del ENSP00000264595.2:n.507+26del
ENST00000502310.5:c.162+26del ENSP00000423798.1:n.162+26del
ENST00000506853.5:n.541+26del
ENST00000510635.1:c.203+26del
ENST00000510955.5:n.428+26del
NM_000027.3:c.507+26del NP_000018.2:n.507+26del
NM_001171988.1:c.507+26del NP_001165459.1:n.507+26del
NR_033655.1:n.635+26del
XM_006714123.2:c.507+26del XP_006714186.1:n.507+26del
XR_001741155.2:n.601+26del
NM_000027.4:c.507+26del MANE Select NP_000018.2:n.507+26del
NM_001171988.2:c.507+26del NP_001165459.1:n.507+26del
NR_033655.2:n.569+26del
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