Canonical Allele Identifier: CA144016

Gene: AGA

Linked Data

• ClinVar Variation Id: 55941
• ClinVar RCV Id: RCV000049350
• dbSNP Id: rs386833422
• MyVariant Identifiers: chr4:g.178360788del (hg19) ; chr4:g.177439634del (hg38)
• PubMed: PMID:1722323

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439635del , CM000666.2:g.177439635del	GRCh38
NC_000004.11:g.178360789del , CM000666.1:g.178360789del	GRCh37
NC_000004.10:g.178597783del	NCBI36
NG_011845.2:g.7870del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.336del MANE Select	ENSP00000264595.2:p.Ile112MetfsTer16
ENST00000264595.6:c.336del	ENSP00000264595.2:p.Ile112MetfsTer16
ENST00000506853.5:n.370del
ENST00000510635.1:c.32del
ENST00000510955.5:n.315+639del
NM_000027.3:c.336del	NP_000018.2:p.Ile112MetfsTer16
NM_001171988.1:c.336del	NP_001165459.1:p.Ile112MetfsTer16
NR_033655.1:n.464del
XM_006714123.2:c.336del	XP_006714186.1:p.Ile112MetfsTer16
XR_001741155.2:n.430del
NM_000027.4:c.336del MANE Select	NP_000018.2:p.Ile112MetfsTer16
NM_001171988.2:c.336del	NP_001165459.1:p.Ile112MetfsTer16
NR_033655.2:n.398del