Canonical Allele Identifier: CA212726
Gene: AGA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442268_177442274del , CM000666.2:g.177442268_177442274del GRCh38
NC_000004.11:g.178363422_178363428del , CM000666.1:g.178363422_178363428del GRCh37
NC_000004.10:g.178600416_178600422del NCBI36
NG_011845.2:g.5230_5236del

Transcript Alleles

HGVS Amino-acid Change
NM_000027.4:c.102_108del MANE Select NP_000018.2:p.Trp34Ter
ENST00000264595.7:c.102_108del MANE Select ENSP00000264595.2:p.Trp34Ter
NM_000027.3:c.102_108del NP_000018.2:p.Trp34Ter
NM_001171988.1:c.102_108del NP_001165459.1:p.Trp34Ter
NM_001171988.2:c.102_108del NP_001165459.1:p.Trp34Ter
NR_033655.1:n.230_236del
NR_033655.2:n.164_170del
ENST00000264595.6:c.102_108del ENSP00000264595.2:p.Trp34Ter
ENST00000506853.5:n.136_142del
ENST00000510955.5:n.136_142del
ENST00000511231.1:n.136_142del
XM_006714123.2:c.102_108del XP_006714186.1:p.Trp34Ter
XR_001741155.2:n.196_202del
Search 100 bp 5'
Search 100 bp 3'