Canonical Allele Identifier: CA891842786

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 568345
• ClinVar RCV Id: RCV000688675 ; RCV003225952
• dbSNP Id: rs1561587715
• MyVariant Identifiers: chr5:g.161322684_161322703del (hg19) ; chr5:g.161895678_161895697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161895678_161895697del , CM000667.2:g.161895678_161895697del	GRCh38
NC_000005.9:g.161322684_161322703del , CM000667.1:g.161322684_161322703del	GRCh37
NC_000005.8:g.161255262_161255281del	NCBI36
NG_011548.1:g.53488_53507del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.869_888del MANE Select	ENSP00000377517.4:p.Val290GlufsTer10
ENST00000635880.1:c.869_888del	ENSP00000489738.1:p.Val290GlufsTer10
ENST00000635916.2:n.2470_2489del
ENST00000636340.1:c.*718_*737del	ENSP00000490002.1:n.*718_*737del
ENST00000636408.1:n.673_692del
ENST00000636573.1:c.869_888del	ENSP00000490320.1:p.Val290GlufsTer10
ENST00000637044.1:c.*643_*662del	ENSP00000490684.1:n.*643_*662del
ENST00000637827.1:c.869_888del	ENSP00000490804.1:p.Val290GlufsTer10
ENST00000638112.1:c.869_888del	ENSP00000489839.1:p.Val290GlufsTer10
ENST00000638159.1:c.914_933del	ENSP00000490360.1:p.Val305GlufsTer10
ENST00000023897.10:c.869_888del	ENSP00000023897.6:p.Val290GlufsTer10
ENST00000393943.9:c.869_888del	ENSP00000377517.4:p.Val290GlufsTer10
ENST00000428797.7:c.869_888del	ENSP00000393097.2:p.Val290GlufsTer10
ENST00000437025.6:c.869_888del	ENSP00000415441.2:p.Val290GlufsTer10
NM_000806.5:c.869_888del	NP_000797.2:p.Val290GlufsTer10
NM_001127643.1:c.869_888del	NP_001121115.1:p.Val290GlufsTer10
NM_001127644.1:c.869_888del	NP_001121116.1:p.Val290GlufsTer10
NM_001127645.1:c.869_888del	NP_001121117.1:p.Val290GlufsTer10
NM_001127648.1:c.869_888del	NP_001121120.1:p.Val290GlufsTer10
NM_001127644.2:c.869_888del MANE Select	NP_001121116.1:p.Val290GlufsTer10
NM_001127643.2:c.869_888del	NP_001121115.1:p.Val290GlufsTer10
NM_001127645.2:c.869_888del	NP_001121117.1:p.Val290GlufsTer10
NM_001127648.2:c.869_888del	NP_001121120.1:p.Val290GlufsTer10