Canonical Allele Identifier: CA439237004
Gene: GABRG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123893_46123894insT , CM000666.2:g.46123893_46123894insT GRCh38
NC_000004.11:g.46125910_46125911insT , CM000666.1:g.46125910_46125911insT GRCh37
NC_000004.10:g.45820667_45820668insT NCBI36
NG_046964.1:g.5172_5173insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.20_21insA MANE Select ENSP00000295452.4:p.Phe7LeufsTer13
ENST00000295452.4:c.20_21insA ENSP00000295452.4:p.Phe7LeufsTer13
NM_173536.3:c.20_21insA NP_775807.2:p.Phe7LeufsTer13
NM_173536.4:c.20_21insA MANE Select NP_775807.2:p.Phe7LeufsTer13