Canonical Allele Identifier: CA3147049

Gene: AGA

Linked Data

• ClinVar Variation Id: 495346
• ClinVar RCV Id: RCV000587664 ; RCV001574484
• dbSNP Id: rs759063638
• ExAC: 4:178363422 AAAGGGCC / A
• gnomAD v2: 4-178363422-AAAGGGCC-A
• gnomAD v3: 4-177442268-AAAGGGCC-A
• gnomAD v4: 4-177442268-AAAGGGCC-A
• MyVariant Identifiers: chr4:g.178363423_178363429del (hg19) ; chr4:g.177442269_177442275del (hg38)
• PubMed: PMID:8457202 ; PMID:11309371

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442272_177442278del , CM000666.2:g.177442272_177442278del	GRCh38
NC_000004.11:g.178363426_178363432del , CM000666.1:g.178363426_178363432del	GRCh37
NC_000004.10:g.178600420_178600426del	NCBI36
NG_011845.2:g.5229_5235del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.101_107del MANE Select	ENSP00000264595.2:p.Trp34LeufsTer12
ENST00000264595.6:c.101_107del	ENSP00000264595.2:p.Trp34LeufsTer12
ENST00000506853.5:n.135_141del
ENST00000510955.5:n.135_141del
ENST00000511231.1:n.135_141del
NM_000027.3:c.101_107del	NP_000018.2:p.Trp34LeufsTer12
NM_001171988.1:c.101_107del	NP_001165459.1:p.Trp34LeufsTer12
NR_033655.1:n.229_235del
XM_006714123.2:c.101_107del	XP_006714186.1:p.Trp34LeufsTer12
XR_001741155.2:n.195_201del
NM_000027.4:c.101_107del MANE Select	NP_000018.2:p.Trp34LeufsTer12
NM_001171988.2:c.101_107del	NP_001165459.1:p.Trp34LeufsTer12
NR_033655.2:n.163_169del