Canonical Allele Identifier: CA564165290

Gene: GABRA1

Linked Data

• dbSNP Id: rs1406164886
• gnomAD v2: 5-161275153-CGTAT-C
• MyVariant Identifiers: chr5:g.161275154_161275157del (hg19) ; chr5:g.161848148_161848151del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848148_161848151del , CM000667.2:g.161848148_161848151del	GRCh38
NC_000005.9:g.161275154_161275157del , CM000667.1:g.161275154_161275157del	GRCh37
NC_000005.8:g.161207732_161207735del	NCBI36
NG_011548.1:g.5958_5961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.-290_-287del MANE Select	ENSP00000377517.4:n.-290_-287del
ENST00000635916.2:n.486_489del
ENST00000638112.1:c.-247-43_-247-40del	ENSP00000489839.1:n.-247-43_-247-40del
ENST00000023897.10:c.-247-43_-247-40del	ENSP00000023897.6:n.-247-43_-247-40del
ENST00000393943.9:c.-290_-287del	ENSP00000377517.4:n.-290_-287del
ENST00000428797.7:c.-247-43_-247-40del	ENSP00000393097.2:n.-247-43_-247-40del
ENST00000635096.1:c.-247-43_-247-40del	ENSP00000489033.1:n.-247-43_-247-40del
NM_000806.5:c.-247-43_-247-40del	NP_000797.2:n.-247-43_-247-40del
NM_001127643.1:c.-247-43_-247-40del	NP_001121115.1:n.-247-43_-247-40del
NM_001127644.1:c.-290_-287del	NP_001121116.1:n.-290_-287del
XR_941158.3:n.89+2369_89+2372del
NM_001127644.2:c.-290_-287del MANE Select	NP_001121116.1:n.-290_-287del
NM_001127643.2:c.-247-43_-247-40del	NP_001121115.1:n.-247-43_-247-40del