Canonical Allele Identifier: CA564165306

Gene: GABRA1

Linked Data

• dbSNP Id: rs1259780696
• gnomAD v2: 5-161275307-CCTCTGCTCTGGCGCGCCCGGACTCGGACTCGCAGA-C
• MyVariant Identifiers: chr5:g.161275308_161275342del (hg19) ; chr5:g.161848302_161848336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848305_161848339del , CM000667.2:g.161848305_161848339del	GRCh38
NC_000005.9:g.161275311_161275345del , CM000667.1:g.161275311_161275345del	GRCh37
NC_000005.8:g.161207889_161207923del	NCBI36
NG_011548.1:g.6115_6149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.-133_-99del MANE Select	ENSP00000377517.4:n.-133_-99del
ENST00000635916.2:n.643_677del
ENST00000637044.1:c.-133_-99del	ENSP00000490684.1:n.-133_-99del
ENST00000638112.1:c.-133_-99del	ENSP00000489839.1:n.-133_-99del
ENST00000023897.10:c.-133_-99del	ENSP00000023897.6:n.-133_-99del
ENST00000393943.9:c.-133_-99del	ENSP00000377517.4:n.-133_-99del
ENST00000428797.7:c.-133_-99del	ENSP00000393097.2:n.-133_-99del
ENST00000635096.1:c.-133_-99del	ENSP00000489033.1:n.-133_-99del
NM_000806.5:c.-133_-99del	NP_000797.2:n.-133_-99del
NM_001127643.1:c.-133_-99del	NP_001121115.1:n.-133_-99del
NM_001127644.1:c.-133_-99del	NP_001121116.1:n.-133_-99del
XR_941158.3:n.89+2184_89+2218del
NM_001127644.2:c.-133_-99del MANE Select	NP_001121116.1:n.-133_-99del
NM_001127643.2:c.-133_-99del	NP_001121115.1:n.-133_-99del