Canonical Allele Identifier: CA2672746391

Gene: AGA

Linked Data

• gnomAD v4: 4-177434509-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434512del , CM000666.2:g.177434512del	GRCh38
NC_000004.11:g.178355666del , CM000666.1:g.178355666del	GRCh37
NC_000004.10:g.178592660del	NCBI36
NG_011845.2:g.12994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-21del MANE Select	ENSP00000264595.2:n.699-21del
ENST00000264595.6:c.699-21del	ENSP00000264595.2:n.699-21del
ENST00000502310.5:c.278-29del	ENSP00000423798.1:n.278-29del
ENST00000506853.5:n.657-21del
ENST00000510635.1:c.373-29del
NM_000027.3:c.699-21del	NP_000018.2:n.699-21del
NM_001171988.1:c.677-29del	NP_001165459.1:n.677-29del
NR_033655.1:n.751-21del
XM_006714123.2:c.677-21del	XP_006714186.1:n.677-21del
XR_001741155.2:n.771-21del
NM_000027.4:c.699-21del MANE Select	NP_000018.2:n.699-21del
NM_001171988.2:c.677-29del	NP_001165459.1:n.677-29del
NR_033655.2:n.685-21del