Canonical Allele Identifier: CA3146904

Gene: AGA

Linked Data

• dbSNP Id: rs776555596
• ExAC: 4:178359871 TA / T
• gnomAD v2: 4-178359871-TA-T
• gnomAD v3: 4-177438717-TA-T
• gnomAD v4: 4-177438717-TA-T
• MyVariant Identifiers: chr4:g.178359872del (hg19) ; chr4:g.177438718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438718del , CM000666.2:g.177438718del	GRCh38
NC_000004.11:g.178359872del , CM000666.1:g.178359872del	GRCh37
NC_000004.10:g.178596866del	NCBI36
NG_011845.2:g.8786del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.507+27del MANE Select	ENSP00000264595.2:n.507+27del
ENST00000264595.6:c.507+27del	ENSP00000264595.2:n.507+27del
ENST00000502310.5:c.162+27del	ENSP00000423798.1:n.162+27del
ENST00000506853.5:n.541+27del
ENST00000510635.1:c.203+27del
ENST00000510955.5:n.428+27del
NM_000027.3:c.507+27del	NP_000018.2:n.507+27del
NM_001171988.1:c.507+27del	NP_001165459.1:n.507+27del
NR_033655.1:n.635+27del
XM_006714123.2:c.507+27del	XP_006714186.1:n.507+27del
XR_001741155.2:n.601+27del
NM_000027.4:c.507+27del MANE Select	NP_000018.2:n.507+27del
NM_001171988.2:c.507+27del	NP_001165459.1:n.507+27del
NR_033655.2:n.569+27del