Canonical Allele Identifier: CA806634604

Gene: GABRA1

Linked Data

• dbSNP Id: rs1459214431
• gnomAD v4: 5-161848209-GA-G
• MyVariant Identifiers: chr5:g.161275216del (hg19) ; chr5:g.161848210del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848211del , CM000667.2:g.161848211del	GRCh38
NC_000005.9:g.161275217del , CM000667.1:g.161275217del	GRCh37
NC_000005.8:g.161207795del	NCBI36
NG_011548.1:g.6021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.-227del MANE Select	ENSP00000377517.4:n.-227del
ENST00000635916.2:n.549del
ENST00000638112.1:c.-227del	ENSP00000489839.1:n.-227del
ENST00000023897.10:c.-227del	ENSP00000023897.6:n.-227del
ENST00000393943.9:c.-227del	ENSP00000377517.4:n.-227del
ENST00000428797.7:c.-227del	ENSP00000393097.2:n.-227del
ENST00000635096.1:c.-227del	ENSP00000489033.1:n.-227del
NM_000806.5:c.-227del	NP_000797.2:n.-227del
NM_001127643.1:c.-227del	NP_001121115.1:n.-227del
NM_001127644.1:c.-227del	NP_001121116.1:n.-227del
XR_941158.3:n.89+2310del
NM_001127644.2:c.-227del MANE Select	NP_001121116.1:n.-227del
NM_001127643.2:c.-227del	NP_001121115.1:n.-227del