Canonical Allele Identifier: CA2672747983

Gene: AGA

Linked Data

• gnomAD v4: 4-177439721-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439721_177439722insAA , CM000666.2:g.177439721_177439722insAA	GRCh38
NC_000004.11:g.178360875_178360876insAA , CM000666.1:g.178360875_178360876insAA	GRCh37
NC_000004.10:g.178597869_178597870insAA	NCBI36
NG_011845.2:g.7782_7783insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-34_282-33insTT MANE Select	ENSP00000264595.2:n.282-34_282-33insTT
ENST00000264595.6:c.282-34_282-33insTT	ENSP00000264595.2:n.282-34_282-33insTT
ENST00000506853.5:n.316-34_316-33insTT
ENST00000510955.5:n.315+551_315+552insTT
NM_000027.3:c.282-34_282-33insTT	NP_000018.2:n.282-34_282-33insTT
NM_001171988.1:c.282-34_282-33insTT	NP_001165459.1:n.282-34_282-33insTT
NR_033655.1:n.410-34_410-33insTT
XM_006714123.2:c.282-34_282-33insTT	XP_006714186.1:n.282-34_282-33insTT
XR_001741155.2:n.376-34_376-33insTT
NM_000027.4:c.282-34_282-33insTT MANE Select	NP_000018.2:n.282-34_282-33insTT
NM_001171988.2:c.282-34_282-33insTT	NP_001165459.1:n.282-34_282-33insTT
NR_033655.2:n.344-34_344-33insTT