Canonical Allele Identifier: CA2533539342
Gene: GABRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161848061_161848063del , CM000667.2:g.161848061_161848063del GRCh38
NC_000005.9:g.161275067_161275069del , CM000667.1:g.161275067_161275069del GRCh37
NC_000005.8:g.161207645_161207647del NCBI36
NG_011548.1:g.5871_5873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000635916.2:n.399_401del
ENST00000638112.1:c.-247-130_-247-128del ENSP00000489839.1:n.-247-130_-247-128del
ENST00000023897.10:c.-247-130_-247-128del ENSP00000023897.6:n.-247-130_-247-128del
ENST00000393943.9:c.-377_-375del ENSP00000377517.4:n.-377_-375del
ENST00000428797.7:c.-247-130_-247-128del ENSP00000393097.2:n.-247-130_-247-128del
ENST00000635096.1:c.-247-130_-247-128del ENSP00000489033.1:n.-247-130_-247-128del
NM_000806.5:c.-247-130_-247-128del NP_000797.2:n.-247-130_-247-128del
NM_001127643.1:c.-247-130_-247-128del NP_001121115.1:n.-247-130_-247-128del
NM_001127644.1:c.-377_-375del NP_001121116.1:n.-377_-375del
XR_941158.3:n.89+2457_89+2459del
NM_001127643.2:c.-247-130_-247-128del NP_001121115.1:n.-247-130_-247-128del