Canonical Allele Identifier: CA556484580

Gene: AGA

Linked Data

• dbSNP Id: rs1474737465
• gnomAD v2: 4-178360873-AAGG-A
• MyVariant Identifiers: chr4:g.178360874_178360876del (hg19) ; chr4:g.177439720_177439722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439722_177439724del , CM000666.2:g.177439722_177439724del	GRCh38
NC_000004.11:g.178360876_178360878del , CM000666.1:g.178360876_178360878del	GRCh37
NC_000004.10:g.178597870_178597872del	NCBI36
NG_011845.2:g.7782_7784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-34_282-32del MANE Select	ENSP00000264595.2:n.282-34_282-32del
ENST00000264595.6:c.282-34_282-32del	ENSP00000264595.2:n.282-34_282-32del
ENST00000506853.5:n.316-34_316-32del
ENST00000510955.5:n.315+551_315+553del
NM_000027.3:c.282-34_282-32del	NP_000018.2:n.282-34_282-32del
NM_001171988.1:c.282-34_282-32del	NP_001165459.1:n.282-34_282-32del
NR_033655.1:n.410-34_410-32del
XM_006714123.2:c.282-34_282-32del	XP_006714186.1:n.282-34_282-32del
XR_001741155.2:n.376-34_376-32del
NM_000027.4:c.282-34_282-32del MANE Select	NP_000018.2:n.282-34_282-32del
NM_001171988.2:c.282-34_282-32del	NP_001165459.1:n.282-34_282-32del
NR_033655.2:n.344-34_344-32del