Canonical Allele Identifier: CA3146951

Gene: AGA

Linked Data

• ClinVar Variation Id: 985108
• ClinVar RCV Id: RCV001265847
• dbSNP Id: rs764357395
• ExAC: 4:178360794 AT / A
• gnomAD v2: 4-178360794-AT-A
• gnomAD v3: 4-177439640-AT-A
• gnomAD v4: 4-177439640-AT-A
• MyVariant Identifiers: chr4:g.178360795del (hg19) ; chr4:g.177439641del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439645del , CM000666.2:g.177439645del	GRCh38
NC_000004.11:g.178360799del , CM000666.1:g.178360799del	GRCh37
NC_000004.10:g.178597793del	NCBI36
NG_011845.2:g.7863del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.329del MANE Select	ENSP00000264595.2:p.Asn110MetfsTer18
ENST00000264595.6:c.329del	ENSP00000264595.2:p.Asn110MetfsTer18
ENST00000506853.5:n.363del
ENST00000510635.1:c.25del
ENST00000510955.5:n.315+632del
NM_000027.3:c.329del	NP_000018.2:p.Asn110MetfsTer18
NM_001171988.1:c.329del	NP_001165459.1:p.Asn110MetfsTer18
NR_033655.1:n.457del
XM_006714123.2:c.329del	XP_006714186.1:p.Asn110MetfsTer18
XR_001741155.2:n.423del
NM_000027.4:c.329del MANE Select	NP_000018.2:p.Asn110MetfsTer18
NM_001171988.2:c.329del	NP_001165459.1:p.Asn110MetfsTer18
NR_033655.2:n.391del