Canonical Allele Identifier: CA1596258211
Gene: GABRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1755342619

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161895892_161895909del , CM000667.2:g.161895892_161895909del GRCh38
NC_000005.9:g.161322898_161322915del , CM000667.1:g.161322898_161322915del GRCh37
NC_000005.8:g.161255476_161255493del NCBI36
NG_011548.1:g.53702_53719del

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.1059+24_1059+41del MANE Select ENSP00000377517.4:n.1059+24_1059+41del
ENST00000635880.1:c.1059+24_1059+41del ENSP00000489738.1:n.1059+24_1059+41del
ENST00000635916.2:n.2684_2701del
ENST00000636340.1:c.*908+24_*908+41del ENSP00000490002.1:n.*908+24_*908+41del
ENST00000636408.1:n.863+24_863+41del
ENST00000636573.1:c.1059+24_1059+41del ENSP00000490320.1:n.1059+24_1059+41del
ENST00000637044.1:c.*833+24_*833+41del ENSP00000490684.1:n.*833+24_*833+41del
ENST00000637827.1:c.1059+24_1059+41del ENSP00000490804.1:n.1059+24_1059+41del
ENST00000638112.1:c.1059+24_1059+41del ENSP00000489839.1:n.1059+24_1059+41del
ENST00000638159.1:c.1104+24_1104+41del ENSP00000490360.1:n.1104+24_1104+41del
ENST00000023897.10:c.1059+24_1059+41del ENSP00000023897.6:n.1059+24_1059+41del
ENST00000393943.9:c.1059+24_1059+41del ENSP00000377517.4:n.1059+24_1059+41del
ENST00000428797.7:c.1059+24_1059+41del ENSP00000393097.2:n.1059+24_1059+41del
ENST00000437025.6:c.1059+24_1059+41del ENSP00000415441.2:n.1059+24_1059+41del
NM_000806.5:c.1059+24_1059+41del NP_000797.2:n.1059+24_1059+41del
NM_001127643.1:c.1059+24_1059+41del NP_001121115.1:n.1059+24_1059+41del
NM_001127644.1:c.1059+24_1059+41del NP_001121116.1:n.1059+24_1059+41del
NM_001127645.1:c.1059+24_1059+41del NP_001121117.1:n.1059+24_1059+41del
NM_001127648.1:c.1059+24_1059+41del NP_001121120.1:n.1059+24_1059+41del
NM_001127644.2:c.1059+24_1059+41del MANE Select NP_001121116.1:n.1059+24_1059+41del
NM_001127643.2:c.1059+24_1059+41del NP_001121115.1:n.1059+24_1059+41del
NM_001127645.2:c.1059+24_1059+41del NP_001121117.1:n.1059+24_1059+41del
NM_001127648.2:c.1059+24_1059+41del NP_001121120.1:n.1059+24_1059+41del