Canonical Allele Identifier: CA3146964

Gene: AGA

Linked Data

• dbSNP Id: rs1560950285
• ExAC: 4:178360876 G / GAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT
• gnomAD v2: 4-178360876-G-GAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT
• gnomAD v3: 4-177439722-G-GAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT
• gnomAD v4: 4-177439722-G-GAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT
• MyVariant Identifiers: chr4:g.178360876_178360877insAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT (hg19) ; chr4:g.177439722_177439723insAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439723_177439773dup , CM000666.2:g.177439723_177439773dup	GRCh38
NC_000004.11:g.178360877_178360927dup , CM000666.1:g.178360877_178360927dup	GRCh37
NC_000004.10:g.178597871_178597921dup	NCBI36
NG_011845.2:g.7731_7781dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-85_282-35dup MANE Select	ENSP00000264595.2:n.282-85_282-35dup
ENST00000264595.6:c.282-85_282-35dup	ENSP00000264595.2:n.282-85_282-35dup
ENST00000506853.5:n.316-85_316-35dup
ENST00000510955.5:n.315+500_315+550dup
NM_000027.3:c.282-85_282-35dup	NP_000018.2:n.282-85_282-35dup
NM_001171988.1:c.282-85_282-35dup	NP_001165459.1:n.282-85_282-35dup
NR_033655.1:n.410-85_410-35dup
XM_006714123.2:c.282-85_282-35dup	XP_006714186.1:n.282-85_282-35dup
XR_001741155.2:n.376-85_376-35dup
NM_000027.4:c.282-85_282-35dup MANE Select	NP_000018.2:n.282-85_282-35dup
NM_001171988.2:c.282-85_282-35dup	NP_001165459.1:n.282-85_282-35dup
NR_033655.2:n.344-85_344-35dup