Canonical Allele Identifier: CA1083668428

Gene: GABRA1

Linked Data

• dbSNP Id: rs1755441925
• gnomAD v3: 5-161897815-ATG-A
• gnomAD v4: 5-161897815-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161897818_161897819del , CM000667.2:g.161897818_161897819del	GRCh38
NC_000005.9:g.161324824_161324825del , CM000667.1:g.161324824_161324825del	GRCh37
NC_000005.8:g.161257402_161257403del	NCBI36
NG_011548.1:g.55628_55629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.*396_*397del MANE Select	ENSP00000377517.4:n.*396_*397del
ENST00000635916.2:n.4610_4611del
ENST00000636340.1:c.*1616_*1617del	ENSP00000490002.1:n.*1616_*1617del
ENST00000636408.1:n.1571_1572del
ENST00000636573.1:c.*396_*397del	ENSP00000490320.1:n.*396_*397del
ENST00000637044.1:c.*1541_*1542del	ENSP00000490684.1:n.*1541_*1542del
ENST00000638112.1:c.*396_*397del	ENSP00000489839.1:n.*396_*397del
ENST00000638159.1:c.*396_*397del	ENSP00000490360.1:n.*396_*397del
ENST00000393943.9:c.*396_*397del	ENSP00000377517.4:n.*396_*397del
ENST00000428797.7:c.*396_*397del	ENSP00000393097.2:n.*396_*397del
ENST00000437025.6:c.*396_*397del	ENSP00000415441.2:n.*396_*397del
NM_000806.5:c.*396_*397del	NP_000797.2:n.*396_*397del
NM_001127643.1:c.*396_*397del	NP_001121115.1:n.*396_*397del
NM_001127644.1:c.*396_*397del	NP_001121116.1:n.*396_*397del
NM_001127645.1:c.*396_*397del	NP_001121117.1:n.*396_*397del
NM_001127648.1:c.*396_*397del	NP_001121120.1:n.*396_*397del
NM_001127644.2:c.*396_*397del MANE Select	NP_001121116.1:n.*396_*397del
NM_001127643.2:c.*396_*397del	NP_001121115.1:n.*396_*397del
NM_001127645.2:c.*396_*397del	NP_001121117.1:n.*396_*397del
NM_001127648.2:c.*396_*397del	NP_001121120.1:n.*396_*397del