Canonical Allele Identifier: CA1454662324
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1719731355
gnomAD v3: 4-46085723-CATT-C
gnomAD v4: 4-46085723-CATT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46085724_46085726del , CM000666.2:g.46085724_46085726del GRCh38
NC_000004.11:g.46087741_46087743del , CM000666.1:g.46087741_46087743del GRCh37
NC_000004.10:g.45782498_45782500del NCBI36
NG_046964.1:g.43340_43342del

Transcript Alleles

HGVS Amino-acid change
ENST00000295452.5:c.254-1673_254-1671del MANE Select ENSP00000295452.4:n.254-1673_254-1671del
ENST00000295452.4:c.254-1673_254-1671del ENSP00000295452.4:n.254-1673_254-1671del
NM_173536.3:c.254-1673_254-1671del NP_775807.2:n.254-1673_254-1671del
NM_173536.4:c.254-1673_254-1671del MANE Select NP_775807.2:n.254-1673_254-1671del
Search 100 bp 5'
Search 100 bp 3'