Canonical Allele Identifier: CA2679655411

Gene: GABRR1

Linked Data

• gnomAD v4: 6-89217247-T-TGGCCCGGAAGAGAAGTCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89217247_89217248insGGCCCGGAAGAGAAGTCCAC , CM000668.2:g.89217247_89217248insGGCCCGGAAGAGAAGTCCAC	GRCh38
NC_000006.11:g.89926966_89926967insGGCCCGGAAGAGAAGTCCAC , CM000668.1:g.89926966_89926967insGGCCCGGAAGAGAAGTCCAC	GRCh37
NC_000006.10:g.89983685_89983686insGGCCCGGAAGAGAAGTCCAC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000454853.7:c.75_76insGTGGACTTCTCTTCCGGGCC MANE Select	ENSP00000412673.2:p.Met26ValfsTer?
ENST00000369451.7:c.-239+4027_-239+4028insGTGGACTTCTCTTCCGGGCC	ENSP00000358463.3:n.-239+4027_-239+4028in...
ENST00000435811.5:c.75_76insGTGGACTTCTCTTCCGGGCC	ENSP00000394687.1:p.Met26ValfsTer26
ENST00000454853.6:c.75_76insGTGGACTTCTCTTCCGGGCC	ENSP00000412673.2:p.Met26ValfsTer?
ENST00000457434.1:c.75_76insGTGGACTTCTCTTCCGGGCC	ENSP00000410130.1:p.Met26ValfsTer?
ENST00000481493.1:n.14_15insGTGGACTTCTCTTCCGGGCC
ENST00000611484.4:c.-289_-288insGTGGACTTCTCTTCCGGGCC	ENSP00000478846.1:n.-289_-288insGTGGACTTC...
ENST00000621627.4:c.-242+4027_-242+4028insGTGGACTTCTCTTCCGGGCC	ENSP00000481986.1:n.-242+4027_-242+4028in...
NM_001256703.1:c.75_76insGTGGACTTCTCTTCCGGGCC	NP_001243632.1:p.Met26ValfsTer26
NM_001256704.1:c.-289_-288insGTGGACTTCTCTTCCGGGCC	NP_001243633.1:n.-289_-288insGTGGACTTCTCT...
NM_001267582.1:c.-242+4027_-242+4028insGTGGACTTCTCTTCCGGGCC	NP_001254511.1:n.-242+4027_-242+4028insGT...
NM_002042.4:c.75_76insGTGGACTTCTCTTCCGGGCC	NP_002033.2:p.Met26ValfsTer?
XM_006715438.2:c.75_76insGTGGACTTCTCTTCCGGGCC	XP_006715501.1:p.Met26ValfsTer?
XM_017010689.1:c.-286_-285insGTGGACTTCTCTTCCGGGCC	XP_016866178.1:n.-286_-285insGTGGACTTCTCT...
NM_002042.5:c.75_76insGTGGACTTCTCTTCCGGGCC MANE Select	NP_002033.2:p.Met26ValfsTer?
NM_001267582.2:c.-242+4027_-242+4028insGTGGACTTCTCTTCCGGGCC	NP_001254511.1:n.-242+4027_-242+4028insGT...