Canonical Allele Identifier: CA2672748001

Gene: AGA

Linked Data

• gnomAD v4: 4-177439762-C-CCAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439767_177439770dup , CM000666.2:g.177439767_177439770dup	GRCh38
NC_000004.11:g.178360921_178360924dup , CM000666.1:g.178360921_178360924dup	GRCh37
NC_000004.10:g.178597915_178597918dup	NCBI36
NG_011845.2:g.7738_7741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-78_282-75dup MANE Select	ENSP00000264595.2:n.282-78_282-75dup
ENST00000264595.6:c.282-78_282-75dup	ENSP00000264595.2:n.282-78_282-75dup
ENST00000506853.5:n.316-78_316-75dup
ENST00000510955.5:n.315+507_315+510dup
NM_000027.3:c.282-78_282-75dup	NP_000018.2:n.282-78_282-75dup
NM_001171988.1:c.282-78_282-75dup	NP_001165459.1:n.282-78_282-75dup
NR_033655.1:n.410-78_410-75dup
XM_006714123.2:c.282-78_282-75dup	XP_006714186.1:n.282-78_282-75dup
XR_001741155.2:n.376-78_376-75dup
NM_000027.4:c.282-78_282-75dup MANE Select	NP_000018.2:n.282-78_282-75dup
NM_001171988.2:c.282-78_282-75dup	NP_001165459.1:n.282-78_282-75dup
NR_033655.2:n.344-78_344-75dup