Canonical Allele Identifier: CA795333513
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1181556829
gnomAD v3: 4-46123872-CAGA-C
gnomAD v4: 4-46123872-CAGA-C
MyVariant Identifiers: chr4:g.46125890_46125892del (hg19) chr4:g.46123873_46123875del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123877_46123879del , CM000666.2:g.46123877_46123879del GRCh38
NC_000004.11:g.46125894_46125896del , CM000666.1:g.46125894_46125896del GRCh37
NC_000004.10:g.45820651_45820653del NCBI36
NG_046964.1:g.5191_5193del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.39_41del MANE Select ENSP00000295452.4:p.Leu14del
ENST00000295452.4:c.39_41del ENSP00000295452.4:p.Leu14del
NM_173536.3:c.39_41del NP_775807.2:p.Leu14del
NM_173536.4:c.39_41del MANE Select NP_775807.2:p.Leu14del
Search 100 bp 5'
Search 100 bp 3'