Canonical Allele Identifier: CA2672747830

Gene: AGA

Linked Data

• gnomAD v4: 4-177439689-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439689_177439690insCA , CM000666.2:g.177439689_177439690insCA	GRCh38
NC_000004.11:g.178360843_178360844insCA , CM000666.1:g.178360843_178360844insCA	GRCh37
NC_000004.10:g.178597837_178597838insCA	NCBI36
NG_011845.2:g.7814_7815insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-2_282-1insTG MANE Select	ENSP00000264595.2:n.282-2_282-1insTG
ENST00000264595.6:c.282-2_282-1insTG	ENSP00000264595.2:n.282-2_282-1insTG
ENST00000506853.5:n.316-2_316-1insTG
ENST00000510955.5:n.315+583_315+584insTG
NM_000027.3:c.282-2_282-1insTG	NP_000018.2:n.282-2_282-1insTG
NM_001171988.1:c.282-2_282-1insTG	NP_001165459.1:n.282-2_282-1insTG
NR_033655.1:n.410-2_410-1insTG
XM_006714123.2:c.282-2_282-1insTG	XP_006714186.1:n.282-2_282-1insTG
XR_001741155.2:n.376-2_376-1insTG
NM_000027.4:c.282-2_282-1insTG MANE Select	NP_000018.2:n.282-2_282-1insTG
NM_001171988.2:c.282-2_282-1insTG	NP_001165459.1:n.282-2_282-1insTG
NR_033655.2:n.344-2_344-1insTG