Canonical Allele Identifier: CA2672748575

Gene: AGA

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442275del , CM000666.2:g.177442275del	GRCh38
NC_000004.11:g.178363429del , CM000666.1:g.178363429del	GRCh37
NC_000004.10:g.178600423del	NCBI36
NG_011845.2:g.5230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.102del MANE Select	ENSP00000264595.2:p.Trp34CysfsTer14
ENST00000264595.6:c.102del	ENSP00000264595.2:p.Trp34CysfsTer14
ENST00000506853.5:n.136del
ENST00000510955.5:n.136del
ENST00000511231.1:n.136del
NM_000027.3:c.102del	NP_000018.2:p.Trp34CysfsTer14
NM_001171988.1:c.102del	NP_001165459.1:p.Trp34CysfsTer14
NR_033655.1:n.230del
XM_006714123.2:c.102del	XP_006714186.1:p.Trp34CysfsTer14
XR_001741155.2:n.196del
NM_000027.4:c.102del MANE Select	NP_000018.2:p.Trp34CysfsTer14
NM_001171988.2:c.102del	NP_001165459.1:p.Trp34CysfsTer14
NR_033655.2:n.164del