Canonical Allele Identifier: CA915067756

Gene: AGA

Linked Data

• dbSNP Id: rs1560950970
• gnomAD v2: 4-178361738-AAG-A
• gnomAD v3: 4-177440584-AAG-A
• gnomAD v4: 4-177440584-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440587_177440588del , CM000666.2:g.177440587_177440588del	GRCh38
NC_000004.11:g.178361741_178361742del , CM000666.1:g.178361741_178361742del	GRCh37
NC_000004.10:g.178598735_178598736del	NCBI36
NG_011845.2:g.6918_6919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-160_128-159del MANE Select	ENSP00000264595.2:n.128-160_128-159del
ENST00000264595.6:c.128-160_128-159del	ENSP00000264595.2:n.128-160_128-159del
ENST00000506853.5:n.162-160_162-159del
ENST00000510955.5:n.162-160_162-159del
ENST00000511231.1:n.162-160_162-159del
NM_000027.3:c.128-160_128-159del	NP_000018.2:n.128-160_128-159del
NM_001171988.1:c.128-160_128-159del	NP_001165459.1:n.128-160_128-159del
NR_033655.1:n.256-160_256-159del
XM_006714123.2:c.128-160_128-159del	XP_006714186.1:n.128-160_128-159del
XR_001741155.2:n.222-160_222-159del
NM_000027.4:c.128-160_128-159del MANE Select	NP_000018.2:n.128-160_128-159del
NM_001171988.2:c.128-160_128-159del	NP_001165459.1:n.128-160_128-159del
NR_033655.2:n.190-160_190-159del