Canonical Allele Identifier: CA1596249997

Gene: GABRA1

Linked Data

• dbSNP Id: rs1757280341

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848181del , CM000667.2:g.161848181del	GRCh38
NC_000005.9:g.161275187del , CM000667.1:g.161275187del	GRCh37
NC_000005.8:g.161207765del	NCBI36
NG_011548.1:g.5991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.-257del MANE Select	ENSP00000377517.4:n.-257del
ENST00000635916.2:n.519del
ENST00000638112.1:c.-247-10del	ENSP00000489839.1:n.-247-10del
ENST00000023897.10:c.-247-10del	ENSP00000023897.6:n.-247-10del
ENST00000393943.9:c.-257del	ENSP00000377517.4:n.-257del
ENST00000428797.7:c.-247-10del	ENSP00000393097.2:n.-247-10del
ENST00000635096.1:c.-247-10del	ENSP00000489033.1:n.-247-10del
NM_000806.5:c.-247-10del	NP_000797.2:n.-247-10del
NM_001127643.1:c.-247-10del	NP_001121115.1:n.-247-10del
NM_001127644.1:c.-257del	NP_001121116.1:n.-257del
XR_941158.3:n.89+2342del
NM_001127644.2:c.-257del MANE Select	NP_001121116.1:n.-257del
NM_001127643.2:c.-247-10del	NP_001121115.1:n.-247-10del