Canonical Allele Identifier: CA2672746452

Gene: AGA

Linked Data

• gnomAD v4: 4-177434627-A-AAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434629_177434630dup , CM000666.2:g.177434629_177434630dup	GRCh38
NC_000004.11:g.178355783_178355784dup , CM000666.1:g.178355783_178355784dup	GRCh37
NC_000004.10:g.178592777_178592778dup	NCBI36
NG_011845.2:g.12875_12876dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-140_699-139dup MANE Select	ENSP00000264595.2:n.699-140_699-139dup
ENST00000264595.6:c.699-140_699-139dup	ENSP00000264595.2:n.699-140_699-139dup
ENST00000502310.5:c.278-148_278-147dup	ENSP00000423798.1:n.278-148_278-147dup
ENST00000506853.5:n.657-140_657-139dup
ENST00000510635.1:c.373-148_373-147dup
NM_000027.3:c.699-140_699-139dup	NP_000018.2:n.699-140_699-139dup
NM_001171988.1:c.677-148_677-147dup	NP_001165459.1:n.677-148_677-147dup
NR_033655.1:n.751-140_751-139dup
XM_006714123.2:c.677-140_677-139dup	XP_006714186.1:n.677-140_677-139dup
XR_001741155.2:n.771-140_771-139dup
NM_000027.4:c.699-140_699-139dup MANE Select	NP_000018.2:n.699-140_699-139dup
NM_001171988.2:c.677-148_677-147dup	NP_001165459.1:n.677-148_677-147dup
NR_033655.2:n.685-140_685-139dup