Canonical Allele Identifier: CA2531753537
Gene: GABRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161882454_161882457del , CM000667.2:g.161882454_161882457del GRCh38
NC_000005.9:g.161309460_161309463del , CM000667.1:g.161309460_161309463del GRCh37
NC_000005.8:g.161242038_161242041del NCBI36
NG_011548.1:g.40264_40267del

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.560-104_560-101del MANE Select ENSP00000377517.4:n.560-104_560-101del
ENST00000635880.1:c.560-104_560-101del ENSP00000489738.1:n.560-104_560-101del
ENST00000635916.2:n.2057_2060del
ENST00000636340.1:c.*409-104_*409-101del ENSP00000490002.1:n.*409-104_*409-101del
ENST00000636408.1:n.364-104_364-101del
ENST00000636573.1:c.560-104_560-101del ENSP00000490320.1:n.560-104_560-101del
ENST00000637044.1:c.*334-104_*334-101del ENSP00000490684.1:n.*334-104_*334-101del
ENST00000637827.1:c.560-104_560-101del ENSP00000490804.1:n.560-104_560-101del
ENST00000638112.1:c.560-104_560-101del ENSP00000489839.1:n.560-104_560-101del
ENST00000638159.1:c.605-104_605-101del ENSP00000490360.1:n.605-104_605-101del
ENST00000023897.10:c.560-104_560-101del ENSP00000023897.6:n.560-104_560-101del
ENST00000393943.9:c.560-104_560-101del ENSP00000377517.4:n.560-104_560-101del
ENST00000428797.7:c.560-104_560-101del ENSP00000393097.2:n.560-104_560-101del
ENST00000437025.6:c.560-104_560-101del ENSP00000415441.2:n.560-104_560-101del
ENST00000519542.1:n.324-104_324-101del
ENST00000634335.1:c.560-104_560-101del ENSP00000489434.1:n.560-104_560-101del
NM_000806.5:c.560-104_560-101del NP_000797.2:n.560-104_560-101del
NM_001127643.1:c.560-104_560-101del NP_001121115.1:n.560-104_560-101del
NM_001127644.1:c.560-104_560-101del NP_001121116.1:n.560-104_560-101del
NM_001127645.1:c.560-104_560-101del NP_001121117.1:n.560-104_560-101del
NM_001127648.1:c.560-104_560-101del NP_001121120.1:n.560-104_560-101del
NM_001127644.2:c.560-104_560-101del MANE Select NP_001121116.1:n.560-104_560-101del
NM_001127643.2:c.560-104_560-101del NP_001121115.1:n.560-104_560-101del
NM_001127645.2:c.560-104_560-101del NP_001121117.1:n.560-104_560-101del
NM_001127648.2:c.560-104_560-101del NP_001121120.1:n.560-104_560-101del