Canonical Allele Identifier: CA1596249980

Gene: GABRA1

Linked Data

• dbSNP Id: rs1468142863

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848143_161848144insTCTTGGTAA , CM000667.2:g.161848143_161848144insTCTTGGTAA	GRCh38
NC_000005.9:g.161275149_161275150insTCTTGGTAA , CM000667.1:g.161275149_161275150insTCTTGGTAA	GRCh37
NC_000005.8:g.161207727_161207728insTCTTGGTAA	NCBI36
NG_011548.1:g.5953_5954insTCTTGGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.-295_-294insTCTTGGTAA MANE Select	ENSP00000377517.4:n.-295_-294insTCTTGGTAA
ENST00000635916.2:n.481_482insTCTTGGTAA
ENST00000638112.1:c.-247-48_-247-47insTCTTGGTAA	ENSP00000489839.1:n.-247-48_-247-47insTCTTGGTAA
ENST00000023897.10:c.-247-48_-247-47insTCTTGGTAA	ENSP00000023897.6:n.-247-48_-247-47insTCTTGGTAA
ENST00000393943.9:c.-295_-294insTCTTGGTAA	ENSP00000377517.4:n.-295_-294insTCTTGGTAA
ENST00000428797.7:c.-247-48_-247-47insTCTTGGTAA	ENSP00000393097.2:n.-247-48_-247-47insTCTTGGTAA
ENST00000635096.1:c.-247-48_-247-47insTCTTGGTAA	ENSP00000489033.1:n.-247-48_-247-47insTCTTGGTAA
NM_000806.5:c.-247-48_-247-47insTCTTGGTAA	NP_000797.2:n.-247-48_-247-47insTCTTGGTAA
NM_001127643.1:c.-247-48_-247-47insTCTTGGTAA	NP_001121115.1:n.-247-48_-247-47insTCTTGGTAA
NM_001127644.1:c.-295_-294insTCTTGGTAA	NP_001121116.1:n.-295_-294insTCTTGGTAA
XR_941158.3:n.89+2376_89+2377insTTACCAAGA
NM_001127644.2:c.-295_-294insTCTTGGTAA MANE Select	NP_001121116.1:n.-295_-294insTCTTGGTAA
NM_001127643.2:c.-247-48_-247-47insTCTTGGTAA	NP_001121115.1:n.-247-48_-247-47insTCTTGGTAA