Canonical Allele Identifier: CA3147024

Gene: AGA

Linked Data

• dbSNP Id: rs770392499
• ExAC: 4:178361628 TC / T
• gnomAD v2: 4-178361628-TC-T
• gnomAD v3: 4-177440474-TC-T
• gnomAD v4: 4-177440474-TC-T
• MyVariant Identifiers: chr4:g.178361629del (hg19) ; chr4:g.177440475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440475del , CM000666.2:g.177440475del	GRCh38
NC_000004.11:g.178361629del , CM000666.1:g.178361629del	GRCh37
NC_000004.10:g.178598623del	NCBI36
NG_011845.2:g.7029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-49del MANE Select	ENSP00000264595.2:n.128-49del
ENST00000264595.6:c.128-49del	ENSP00000264595.2:n.128-49del
ENST00000506853.5:n.162-49del
ENST00000510955.5:n.162-49del
ENST00000511231.1:n.162-49del
NM_000027.3:c.128-49del	NP_000018.2:n.128-49del
NM_001171988.1:c.128-49del	NP_001165459.1:n.128-49del
NR_033655.1:n.256-49del
XM_006714123.2:c.128-49del	XP_006714186.1:n.128-49del
XR_001741155.2:n.222-49del
NM_000027.4:c.128-49del MANE Select	NP_000018.2:n.128-49del
NM_001171988.2:c.128-49del	NP_001165459.1:n.128-49del
NR_033655.2:n.190-49del