Canonical Allele Identifier: CA2527691492
Gene: GABRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161847982del , CM000667.2:g.161847982del GRCh38
NC_000005.9:g.161274988del , CM000667.1:g.161274988del GRCh37
NC_000005.8:g.161207566del NCBI36
NG_011548.1:g.5792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000635916.2:n.320del
ENST00000638112.1:c.-247-209del ENSP00000489839.1:n.-247-209del
ENST00000023897.10:c.-247-209del ENSP00000023897.6:n.-247-209del
ENST00000393943.9:c.-456del ENSP00000377517.4:n.-456del
ENST00000428797.7:c.-248+196del ENSP00000393097.2:n.-248+196del
ENST00000635096.1:c.-247-209del ENSP00000489033.1:n.-247-209del
NM_000806.5:c.-247-209del NP_000797.2:n.-247-209del
NM_001127643.1:c.-248+196del NP_001121115.1:n.-248+196del
NM_001127644.1:c.-456del NP_001121116.1:n.-456del
XR_941158.3:n.89+2538del
NM_001127643.2:c.-248+196del NP_001121115.1:n.-248+196del