Canonical Allele Identifier: CA2525063056
Gene: GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26580582_26580583insTATACGAAATGGTGATGTTTGCT , CM000677.2:g.26580582_26580583insTATACGAAATGGTGATGTTTGCT GRCh38
NC_000015.9:g.26825729_26825730insTATACGAAATGGTGATGTTTGCT , CM000677.1:g.26825729_26825730insTATACGAAATGGTGATGTTTGCT GRCh37
NC_000015.8:g.24376822_24376823insTATACGAAATGGTGATGTTTGCT NCBI36
NG_012836.1:g.198199_198200insGCAAACATCACCATTTCGTATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000299267.9:c.545-126_545-125insGCAAACATCACCATTTCGTATAA ENSP00000299267.4:n.545-126_545-125insGCAAACATCACCATTTCGTATAA...
ENST00000311550.10:c.545-126_545-125insGCAAACATCACCATTTCGTATAA MANE Select ENSP00000308725.5:n.545-126_545-125insGCAAACATCACCATTTCGTATAA...
ENST00000635832.1:n.588-126_588-125insGCAAACATCACCATTTCGTATAA
ENST00000635994.1:c.228-126_228-125insGCAAACATCACCATTTCGTATAA
ENST00000636466.1:c.290-126_290-125insGCAAACATCACCATTTCGTATAA ENSP00000489768.1:n.290-126_290-125insGCAAACATCACCATTTCGTATAA...
ENST00000638099.1:c.446-126_446-125insGCAAACATCACCATTTCGTATAA ENSP00000490678.1:n.446-126_446-125insGCAAACATCACCATTTCGTATAA...
ENST00000299267.8:c.545-126_545-125insGCAAACATCACCATTTCGTATAA ENSP00000299267.4:n.545-126_545-125insGCAAACATCACCATTTCGTATAA...
ENST00000311550.9:c.545-126_545-125insGCAAACATCACCATTTCGTATAA ENSP00000308725.5:n.545-126_545-125insGCAAACATCACCATTTCGTATAA...
ENST00000400188.7:c.332-126_332-125insGCAAACATCACCATTTCGTATAA ENSP00000383049.3:n.332-126_332-125insGCAAACATCACCATTTCGTATAA...
ENST00000541819.6:c.713-126_713-125insGCAAACATCACCATTTCGTATAA ENSP00000442408.2:n.713-126_713-125insGCAAACATCACCATTTCGTATAA...
ENST00000545868.4:c.290-126_290-125insGCAAACATCACCATTTCGTATAA ENSP00000439169.1:n.290-126_290-125insGCAAACATCACCATTTCGTATAA...
ENST00000554556.5:c.*6-126_*6-125insGCAAACATCACCATTTCGTATAA ENSP00000451077.1:n.*6-126_*6-125insGCAAACATCACCATTTCGTATAA
ENST00000555094.5:n.457-126_457-125insGCAAACATCACCATTTCGTATAA
ENST00000555632.5:c.*377-126_*377-125insGCAAACATCACCATTTCGTATAA ENSP00000452041.1:n.*377-126_*377-125insGCAAACATCACCATTTCGTAT...
ENST00000557765.1:n.90_91insGCAAACATCACCATTTCGTATAA
ENST00000622697.4:c.290-126_290-125insGCAAACATCACCATTTCGTATAA ENSP00000481004.1:n.290-126_290-125insGCAAACATCACCATTTCGTATAA...
ENST00000628124.2:c.290-126_290-125insGCAAACATCACCATTTCGTATAA ENSP00000486819.1:n.290-126_290-125insGCAAACATCACCATTTCGTATAA...
NM_000814.5:c.545-126_545-125insGCAAACATCACCATTTCGTATAA NP_000805.1:n.545-126_545-125insGCAAACATCACCATTTCGTATAA
NM_001191320.1:c.290-126_290-125insGCAAACATCACCATTTCGTATAA NP_001178249.1:n.290-126_290-125insGCAAACATCACCATTTCGTATAA
NM_001191321.2:c.332-126_332-125insGCAAACATCACCATTTCGTATAA NP_001178250.1:n.332-126_332-125insGCAAACATCACCATTTCGTATAA
NM_001278631.1:c.290-126_290-125insGCAAACATCACCATTTCGTATAA NP_001265560.1:n.290-126_290-125insGCAAACATCACCATTTCGTATAA
NM_021912.4:c.545-126_545-125insGCAAACATCACCATTTCGTATAA NP_068712.1:n.545-126_545-125insGCAAACATCACCATTTCGTATAA
XM_011521428.1:c.368-126_368-125insGCAAACATCACCATTTCGTATAA XP_011519730.1:n.368-126_368-125insGCAAACATCACCATTTCGTATAA
XM_011521428.3:c.368-126_368-125insGCAAACATCACCATTTCGTATAA XP_011519730.1:n.368-126_368-125insGCAAACATCACCATTTCGTATAA
NM_000814.6:c.545-126_545-125insGCAAACATCACCATTTCGTATAA MANE Select NP_000805.1:n.545-126_545-125insGCAAACATCACCATTTCGTATAA
NM_001191321.3:c.332-126_332-125insGCAAACATCACCATTTCGTATAA NP_001178250.1:n.332-126_332-125insGCAAACATCACCATTTCGTATAA
NM_021912.5:c.545-126_545-125insGCAAACATCACCATTTCGTATAA NP_068712.1:n.545-126_545-125insGCAAACATCACCATTTCGTATAA
NM_001191320.2:c.290-126_290-125insGCAAACATCACCATTTCGTATAA NP_001178249.1:n.290-126_290-125insGCAAACATCACCATTTCGTATAA
NM_001278631.2:c.290-126_290-125insGCAAACATCACCATTTCGTATAA NP_001265560.1:n.290-126_290-125insGCAAACATCACCATTTCGTATAA