Canonical Allele Identifier: CA806637477

Gene: GABRA1

Linked Data

• dbSNP Id: rs1280300946
• gnomAD v3: 5-161851192-AG-A
• gnomAD v4: 5-161851192-AG-A
• MyVariant Identifiers: chr5:g.161278199del (hg19) ; chr5:g.161851193del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161851193del , CM000667.2:g.161851193del	GRCh38
NC_000005.9:g.161278199del , CM000667.1:g.161278199del	GRCh37
NC_000005.8:g.161210777del	NCBI36
NG_011548.1:g.9003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.74+309del MANE Select	ENSP00000377517.4:n.74+309del
ENST00000635880.1:c.74+309del	ENSP00000489738.1:n.74+309del
ENST00000635916.2:n.849+309del
ENST00000636340.1:c.74+309del	ENSP00000490002.1:n.74+309del
ENST00000636573.1:c.74+309del	ENSP00000490320.1:n.74+309del
ENST00000637044.1:c.74+309del	ENSP00000490684.1:n.74+309del
ENST00000637827.1:c.74+309del	ENSP00000490804.1:n.74+309del
ENST00000638112.1:c.74+309del	ENSP00000489839.1:n.74+309del
ENST00000638159.1:c.119+309del	ENSP00000490360.1:n.119+309del
ENST00000023897.10:c.74+309del	ENSP00000023897.6:n.74+309del
ENST00000393943.9:c.74+309del	ENSP00000377517.4:n.74+309del
ENST00000428797.7:c.74+309del	ENSP00000393097.2:n.74+309del
ENST00000437025.6:c.74+309del	ENSP00000415441.2:n.74+309del
ENST00000519621.2:c.74+309del	ENSP00000430435.2:n.74+309del
ENST00000521339.5:c.92+309del	ENSP00000430895.1:n.92+309del
ENST00000522651.6:c.137+309del	ENSP00000430507.2:n.137+309del
ENST00000634335.1:c.74+309del	ENSP00000489434.1:n.74+309del
ENST00000635096.1:c.74+309del	ENSP00000489033.1:n.74+309del
NM_000806.5:c.74+309del	NP_000797.2:n.74+309del
NM_001127643.1:c.74+309del	NP_001121115.1:n.74+309del
NM_001127644.1:c.74+309del	NP_001121116.1:n.74+309del
NM_001127645.1:c.74+309del	NP_001121117.1:n.74+309del
NM_001127648.1:c.74+309del	NP_001121120.1:n.74+309del
NM_001127644.2:c.74+309del MANE Select	NP_001121116.1:n.74+309del
NM_001127643.2:c.74+309del	NP_001121115.1:n.74+309del
NM_001127645.2:c.74+309del	NP_001121117.1:n.74+309del
NM_001127648.2:c.74+309del	NP_001121120.1:n.74+309del