Canonical Allele Identifier: CA2573138200

Gene: AGA

Linked Data

• ClinVar Variation Id: 1446399
• ClinVar RCV Id: RCV001992826
• dbSNP Id: rs2111015936

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437519dup , CM000666.2:g.177437519dup	GRCh38
NC_000004.11:g.178358673dup , CM000666.1:g.178358673dup	GRCh37
NC_000004.10:g.178595667dup	NCBI36
NG_011845.2:g.9986dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.509dup MANE Select	ENSP00000264595.2:p.Asn170LysfsTer27
ENST00000264595.6:c.509dup	ENSP00000264595.2:p.Asn170LysfsTer27
ENST00000502310.5:c.164dup	ENSP00000423798.1:p.Asn55LysfsTer27
ENST00000506853.5:n.543dup
ENST00000510635.1:c.205dup
ENST00000510955.5:n.430dup
NM_000027.3:c.509dup	NP_000018.2:p.Asn170LysfsTer27
NM_001171988.1:c.509dup	NP_001165459.1:p.Asn170LysfsTer27
NR_033655.1:n.637dup
XM_006714123.2:c.509dup	XP_006714186.1:p.Asn170LysfsTer27
XR_001741155.2:n.603dup
NM_000027.4:c.509dup MANE Select	NP_000018.2:p.Asn170LysfsTer27
NM_001171988.2:c.509dup	NP_001165459.1:p.Asn170LysfsTer27
NR_033655.2:n.571dup