Canonical Allele Identifier: CA2580073992

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 2020265
• ClinVar RCV Id: RCV002857149

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161895787_161895791del , CM000667.2:g.161895787_161895791del	GRCh38
NC_000005.9:g.161322793_161322797del , CM000667.1:g.161322793_161322797del	GRCh37
NC_000005.8:g.161255371_161255375del	NCBI36
NG_011548.1:g.53597_53601del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.978_982del MANE Select	ENSP00000377517.4:p.Ala327AspfsTer2
ENST00000635880.1:c.978_982del	ENSP00000489738.1:p.Ala327AspfsTer2
ENST00000635916.2:n.2579_2583del
ENST00000636340.1:c.*827_*831del	ENSP00000490002.1:n.*827_*831del
ENST00000636408.1:n.782_786del
ENST00000636573.1:c.978_982del	ENSP00000490320.1:p.Ala327AspfsTer2
ENST00000637044.1:c.*752_*756del	ENSP00000490684.1:n.*752_*756del
ENST00000637827.1:c.978_982del	ENSP00000490804.1:p.Ala327AspfsTer2
ENST00000638112.1:c.978_982del	ENSP00000489839.1:p.Ala327AspfsTer2
ENST00000638159.1:c.1023_1027del	ENSP00000490360.1:p.Ala342AspfsTer2
ENST00000023897.10:c.978_982del	ENSP00000023897.6:p.Ala327AspfsTer2
ENST00000393943.9:c.978_982del	ENSP00000377517.4:p.Ala327AspfsTer2
ENST00000428797.7:c.978_982del	ENSP00000393097.2:p.Ala327AspfsTer2
ENST00000437025.6:c.978_982del	ENSP00000415441.2:p.Ala327AspfsTer2
NM_000806.5:c.978_982del	NP_000797.2:p.Ala327AspfsTer2
NM_001127643.1:c.978_982del	NP_001121115.1:p.Ala327AspfsTer2
NM_001127644.1:c.978_982del	NP_001121116.1:p.Ala327AspfsTer2
NM_001127645.1:c.978_982del	NP_001121117.1:p.Ala327AspfsTer2
NM_001127648.1:c.978_982del	NP_001121120.1:p.Ala327AspfsTer2
NM_001127644.2:c.978_982del MANE Select	NP_001121116.1:p.Ala327AspfsTer2
NM_001127643.2:c.978_982del	NP_001121115.1:p.Ala327AspfsTer2
NM_001127645.2:c.978_982del	NP_001121117.1:p.Ala327AspfsTer2
NM_001127648.2:c.978_982del	NP_001121120.1:p.Ala327AspfsTer2