Canonical Allele Identifier: CA1596259191
Gene: GABRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161897829_161897830delinsCA , CM000667.2:g.161897829_161897830delinsCA GRCh38
NC_000005.9:g.161324835_161324836delinsCA , CM000667.1:g.161324835_161324836delinsCA GRCh37
NC_000005.8:g.161257413_161257414delinsCA NCBI36
NG_011548.1:g.55639_55640delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000393943.10:c.*407_*408delinsCA MANE Select ENSP00000377517.4:n.*407_*408delinsCA
ENST00000635916.2:n.4621_4622delinsCA
ENST00000636340.1:c.*1627_*1628delinsCA ENSP00000490002.1:n.*1627_*1628delinsCA
ENST00000636408.1:n.1582_1583delinsCA
ENST00000636573.1:c.*407_*408delinsCA ENSP00000490320.1:n.*407_*408delinsCA
ENST00000637044.1:c.*1552_*1553delinsCA ENSP00000490684.1:n.*1552_*1553delinsCA
ENST00000638112.1:c.*407_*408delinsCA ENSP00000489839.1:n.*407_*408delinsCA
ENST00000638159.1:c.*407_*408delinsCA ENSP00000490360.1:n.*407_*408delinsCA
ENST00000393943.9:c.*407_*408delinsCA ENSP00000377517.4:n.*407_*408delinsCA
ENST00000428797.7:c.*407_*408delinsCA ENSP00000393097.2:n.*407_*408delinsCA
ENST00000437025.6:c.*407_*408delinsCA ENSP00000415441.2:n.*407_*408delinsCA
NM_000806.5:c.*407_*408delinsCA NP_000797.2:n.*407_*408delinsCA
NM_001127643.1:c.*407_*408delinsCA NP_001121115.1:n.*407_*408delinsCA
NM_001127644.1:c.*407_*408delinsCA NP_001121116.1:n.*407_*408delinsCA
NM_001127645.1:c.*407_*408delinsCA NP_001121117.1:n.*407_*408delinsCA
NM_001127648.1:c.*407_*408delinsCA NP_001121120.1:n.*407_*408delinsCA
NM_001127644.2:c.*407_*408delinsCA MANE Select NP_001121116.1:n.*407_*408delinsCA
NM_001127643.2:c.*407_*408delinsCA NP_001121115.1:n.*407_*408delinsCA
NM_001127645.2:c.*407_*408delinsCA NP_001121117.1:n.*407_*408delinsCA
NM_001127648.2:c.*407_*408delinsCA NP_001121120.1:n.*407_*408delinsCA