Canonical Allele Identifier: CA1071331011

Gene: AGA

Linked Data

• dbSNP Id: rs1736965713
• gnomAD v3: 4-177440550-CATT-C
• gnomAD v4: 4-177440550-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440552_177440554del , CM000666.2:g.177440552_177440554del	GRCh38
NC_000004.11:g.178361706_178361708del , CM000666.1:g.178361706_178361708del	GRCh37
NC_000004.10:g.178598700_178598702del	NCBI36
NG_011845.2:g.6951_6953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-127_128-125del MANE Select	ENSP00000264595.2:n.128-127_128-125del
ENST00000264595.6:c.128-127_128-125del	ENSP00000264595.2:n.128-127_128-125del
ENST00000506853.5:n.162-127_162-125del
ENST00000510955.5:n.162-127_162-125del
ENST00000511231.1:n.162-127_162-125del
NM_000027.3:c.128-127_128-125del	NP_000018.2:n.128-127_128-125del
NM_001171988.1:c.128-127_128-125del	NP_001165459.1:n.128-127_128-125del
NR_033655.1:n.256-127_256-125del
XM_006714123.2:c.128-127_128-125del	XP_006714186.1:n.128-127_128-125del
XR_001741155.2:n.222-127_222-125del
NM_000027.4:c.128-127_128-125del MANE Select	NP_000018.2:n.128-127_128-125del
NM_001171988.2:c.128-127_128-125del	NP_001165459.1:n.128-127_128-125del
NR_033655.2:n.190-127_190-125del