Canonical Allele Identifier: CA2672746420

Gene: AGA

Linked Data

• gnomAD v4: 4-177434564-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434566_177434567dup , CM000666.2:g.177434566_177434567dup	GRCh38
NC_000004.11:g.178355720_178355721dup , CM000666.1:g.178355720_178355721dup	GRCh37
NC_000004.10:g.178592714_178592715dup	NCBI36
NG_011845.2:g.12938_12939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-77_699-76dup MANE Select	ENSP00000264595.2:n.699-77_699-76dup
ENST00000264595.6:c.699-77_699-76dup	ENSP00000264595.2:n.699-77_699-76dup
ENST00000502310.5:c.278-85_278-84dup	ENSP00000423798.1:n.278-85_278-84dup
ENST00000506853.5:n.657-77_657-76dup
ENST00000510635.1:c.373-85_373-84dup
NM_000027.3:c.699-77_699-76dup	NP_000018.2:n.699-77_699-76dup
NM_001171988.1:c.677-85_677-84dup	NP_001165459.1:n.677-85_677-84dup
NR_033655.1:n.751-77_751-76dup
XM_006714123.2:c.677-77_677-76dup	XP_006714186.1:n.677-77_677-76dup
XR_001741155.2:n.771-77_771-76dup
NM_000027.4:c.699-77_699-76dup MANE Select	NP_000018.2:n.699-77_699-76dup
NM_001171988.2:c.677-85_677-84dup	NP_001165459.1:n.677-85_677-84dup
NR_033655.2:n.685-77_685-76dup