Canonical Allele Identifier: CA110790409

Gene: AGA

Linked Data

• dbSNP Id: rs768712214
• gnomAD v4: 4-177439773-T-TA
• MyVariant Identifiers: chr4:g.178360927_178360928insA (hg19) ; chr4:g.177439773_177439774insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439773_177439774insA , CM000666.2:g.177439773_177439774insA	GRCh38
NC_000004.11:g.178360927_178360928insA , CM000666.1:g.178360927_178360928insA	GRCh37
NC_000004.10:g.178597921_178597922insA	NCBI36
NG_011845.2:g.7730_7731insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-86_282-85insT MANE Select	ENSP00000264595.2:n.282-86_282-85insT
ENST00000264595.6:c.282-86_282-85insT	ENSP00000264595.2:n.282-86_282-85insT
ENST00000506853.5:n.316-86_316-85insT
ENST00000510955.5:n.315+499_315+500insT
NM_000027.3:c.282-86_282-85insT	NP_000018.2:n.282-86_282-85insT
NM_001171988.1:c.282-86_282-85insT	NP_001165459.1:n.282-86_282-85insT
NR_033655.1:n.410-86_410-85insT
XM_006714123.2:c.282-86_282-85insT	XP_006714186.1:n.282-86_282-85insT
XR_001741155.2:n.376-86_376-85insT
NM_000027.4:c.282-86_282-85insT MANE Select	NP_000018.2:n.282-86_282-85insT
NM_001171988.2:c.282-86_282-85insT	NP_001165459.1:n.282-86_282-85insT
NR_033655.2:n.344-86_344-85insT