Canonical Allele Identifier: CA1596258172
Gene: GABRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161895783_161895784delinsTC , CM000667.2:g.161895783_161895784delinsTC GRCh38
NC_000005.9:g.161322789_161322790delinsTC , CM000667.1:g.161322789_161322790delinsTC GRCh37
NC_000005.8:g.161255367_161255368delinsTC NCBI36
NG_011548.1:g.53593_53594delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000393943.10:c.974_975delinsTC MANE Select ENSP00000377517.4:p.Phe325=
ENST00000635880.1:c.974_975delinsTC ENSP00000489738.1:p.Phe325=
ENST00000635916.2:n.2575_2576delinsTC
ENST00000636340.1:c.*823_*824delinsTC ENSP00000490002.1:n.*823_*824delinsTC
ENST00000636408.1:n.778_779delinsTC
ENST00000636573.1:c.974_975delinsTC ENSP00000490320.1:p.Phe325=
ENST00000637044.1:c.*748_*749delinsTC ENSP00000490684.1:n.*748_*749delinsTC
ENST00000637827.1:c.974_975delinsTC ENSP00000490804.1:p.Phe325=
ENST00000638112.1:c.974_975delinsTC ENSP00000489839.1:p.Phe325=
ENST00000638159.1:c.1019_1020delinsTC ENSP00000490360.1:p.Phe340=
ENST00000023897.10:c.974_975delinsTC ENSP00000023897.6:p.Phe325=
ENST00000393943.9:c.974_975delinsTC ENSP00000377517.4:p.Phe325=
ENST00000428797.7:c.974_975delinsTC ENSP00000393097.2:p.Phe325=
ENST00000437025.6:c.974_975delinsTC ENSP00000415441.2:p.Phe325=
NM_000806.5:c.974_975delinsTC NP_000797.2:p.Phe325=
NM_001127643.1:c.974_975delinsTC NP_001121115.1:p.Phe325=
NM_001127644.1:c.974_975delinsTC NP_001121116.1:p.Phe325=
NM_001127645.1:c.974_975delinsTC NP_001121117.1:p.Phe325=
NM_001127648.1:c.974_975delinsTC NP_001121120.1:p.Phe325=
NM_001127644.2:c.974_975delinsTC MANE Select NP_001121116.1:p.Phe325=
NM_001127643.2:c.974_975delinsTC NP_001121115.1:p.Phe325=
NM_001127645.2:c.974_975delinsTC NP_001121117.1:p.Phe325=
NM_001127648.2:c.974_975delinsTC NP_001121120.1:p.Phe325=