Canonical Allele Identifier: CA3544540

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 3040416
• ClinVar RCV Id: RCV003926798
• dbSNP Id: rs3214859
• ExAC: 5:161322652 G / GTT
• gnomAD v2: 5-161322652-G-GTT
• gnomAD v4: 5-161895646-G-GTT
• MyVariant Identifiers: chr5:g.161322654_161322655insTT (hg19) ; chr5:g.161322653_161322654insTT (hg19) ; chr5:g.161322652_161322653insTT (hg19) ; chr5:g.161895647_161895648insTT (hg38) ; chr5:g.161895646_161895647insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161895656_161895657dup , CM000667.2:g.161895656_161895657dup	GRCh38
NC_000005.9:g.161322662_161322663dup , CM000667.1:g.161322662_161322663dup	GRCh37
NC_000005.8:g.161255240_161255241dup	NCBI36
NG_011548.1:g.53466_53467dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.857-10_857-9dup MANE Select	ENSP00000377517.4:n.857-10_857-9dup
ENST00000635880.1:c.857-10_857-9dup	ENSP00000489738.1:n.857-10_857-9dup
ENST00000635916.2:n.2458-10_2458-9dup
ENST00000636340.1:c.*706-10_*706-9dup	ENSP00000490002.1:n.*706-10_*706-9dup
ENST00000636408.1:n.661-10_661-9dup
ENST00000636573.1:c.857-10_857-9dup	ENSP00000490320.1:n.857-10_857-9dup
ENST00000637044.1:c.*631-10_*631-9dup	ENSP00000490684.1:n.*631-10_*631-9dup
ENST00000637827.1:c.857-10_857-9dup	ENSP00000490804.1:n.857-10_857-9dup
ENST00000638112.1:c.857-10_857-9dup	ENSP00000489839.1:n.857-10_857-9dup
ENST00000638159.1:c.902-10_902-9dup	ENSP00000490360.1:n.902-10_902-9dup
ENST00000023897.10:c.857-10_857-9dup	ENSP00000023897.6:n.857-10_857-9dup
ENST00000393943.9:c.857-10_857-9dup	ENSP00000377517.4:n.857-10_857-9dup
ENST00000428797.7:c.857-10_857-9dup	ENSP00000393097.2:n.857-10_857-9dup
ENST00000437025.6:c.857-10_857-9dup	ENSP00000415441.2:n.857-10_857-9dup
NM_000806.5:c.857-10_857-9dup	NP_000797.2:n.857-10_857-9dup
NM_001127643.1:c.857-10_857-9dup	NP_001121115.1:n.857-10_857-9dup
NM_001127644.1:c.857-10_857-9dup	NP_001121116.1:n.857-10_857-9dup
NM_001127645.1:c.857-10_857-9dup	NP_001121117.1:n.857-10_857-9dup
NM_001127648.1:c.857-10_857-9dup	NP_001121120.1:n.857-10_857-9dup
NM_001127644.2:c.857-10_857-9dup MANE Select	NP_001121116.1:n.857-10_857-9dup
NM_001127643.2:c.857-10_857-9dup	NP_001121115.1:n.857-10_857-9dup
NM_001127645.2:c.857-10_857-9dup	NP_001121117.1:n.857-10_857-9dup
NM_001127648.2:c.857-10_857-9dup	NP_001121120.1:n.857-10_857-9dup