Canonical Allele Identifier: CA2679655413

Gene: GABRR1

Linked Data

• gnomAD v4: 6-89217249-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89217250dup , CM000668.2:g.89217250dup	GRCh38
NC_000006.11:g.89926969dup , CM000668.1:g.89926969dup	GRCh37
NC_000006.10:g.89983688dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000454853.7:c.73dup MANE Select	ENSP00000412673.2:p.Arg25LysfsTer14
ENST00000369451.7:c.-239+4025dup	ENSP00000358463.3:n.-239+4025dup
ENST00000435811.5:c.73dup	ENSP00000394687.1:p.Arg25LysfsTer14
ENST00000454853.6:c.73dup	ENSP00000412673.2:p.Arg25LysfsTer14
ENST00000457434.1:c.73dup	ENSP00000410130.1:p.Arg25LysfsTer14
ENST00000481493.1:n.12dup
ENST00000611484.4:c.-291dup	ENSP00000478846.1:n.-291dup
ENST00000621627.4:c.-242+4025dup	ENSP00000481986.1:n.-242+4025dup
NM_001256703.1:c.73dup	NP_001243632.1:p.Arg25LysfsTer14
NM_001256704.1:c.-291dup	NP_001243633.1:n.-291dup
NM_001267582.1:c.-242+4025dup	NP_001254511.1:n.-242+4025dup
NM_002042.4:c.73dup	NP_002033.2:p.Arg25LysfsTer14
XM_006715438.2:c.73dup	XP_006715501.1:p.Arg25LysfsTer14
XM_017010689.1:c.-288dup	XP_016866178.1:n.-288dup
NM_002042.5:c.73dup MANE Select	NP_002033.2:p.Arg25LysfsTer14
NM_001267582.2:c.-242+4025dup	NP_001254511.1:n.-242+4025dup