Canonical Allele Identifier: CA110791504

Gene: AGA

Linked Data

• dbSNP Id: rs928723874
• MyVariant Identifiers: chr4:g.178363118_178363119insT (hg19) ; chr4:g.177441964_177441965insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177441965dup , CM000666.2:g.177441965dup	GRCh38
NC_000004.11:g.178363119dup , CM000666.1:g.178363119dup	GRCh37
NC_000004.10:g.178600113dup	NCBI36
NG_011845.2:g.5539dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+284dup MANE Select	ENSP00000264595.2:n.127+284dup
ENST00000264595.6:c.127+284dup	ENSP00000264595.2:n.127+284dup
ENST00000506853.5:n.161+284dup
ENST00000510955.5:n.161+284dup
ENST00000511231.1:n.161+284dup
NM_000027.3:c.127+284dup	NP_000018.2:n.127+284dup
NM_001171988.1:c.127+284dup	NP_001165459.1:n.127+284dup
NR_033655.1:n.255+284dup
XM_006714123.2:c.127+284dup	XP_006714186.1:n.127+284dup
XR_001741155.2:n.221+284dup
NM_000027.4:c.127+284dup MANE Select	NP_000018.2:n.127+284dup
NM_001171988.2:c.127+284dup	NP_001165459.1:n.127+284dup
NR_033655.2:n.189+284dup