Canonical Allele Identifier: CA2807144645
Gene: GNAO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56334877_56334878del , CM000678.2:g.56334877_56334878del GRCh38
NC_000016.9:g.56368789_56368790del , CM000678.1:g.56368789_56368790del GRCh37
NC_000016.8:g.54926290_54926291del NCBI36
NG_042800.1:g.148539_148540del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262494.13:c.593+20_593+21del ENSP00000262494.7:n.593+20_593+21del
ENST00000262493.12:c.593+20_593+21del MANE Select ENSP00000262493.6:n.593+20_593+21del
ENST00000262494.12:c.593+20_593+21del ENSP00000262494.7:n.593+20_593+21del
ENST00000562316.6:c.260+20_260+21del ENSP00000457238.2:n.260+20_260+21del
ENST00000638185.1:n.808+20_808+21del
ENST00000638210.1:n.893+20_893+21del
ENST00000638705.1:c.593+20_593+21del ENSP00000491223.1:n.593+20_593+21del
ENST00000638836.1:n.503+20_503+21del
ENST00000639055.1:n.1314+20_1314+21del
ENST00000639251.1:n.494+20_494+21del
ENST00000639268.1:c.229-1854_229-1853del
ENST00000639341.1:c.118+20_118+21del
ENST00000639770.1:c.631+20_631+21del ENSP00000491999.1:n.631+20_631+21del
ENST00000640390.1:n.523+20_523+21del
ENST00000640893.1:c.432+20_432+21del ENSP00000492677.1:n.432+20_432+21del
ENST00000262493.10:c.593+20_593+21del ENSP00000262493.6:n.593+20_593+21del
ENST00000262494.11:c.593+20_593+21del ENSP00000262494.7:n.593+20_593+21del
NM_020988.2:c.593+20_593+21del NP_066268.1:n.593+20_593+21del
NM_138736.2:c.593+20_593+21del NP_620073.2:n.593+20_593+21del
XM_011523003.1:c.467+20_467+21del XP_011521305.1:n.467+20_467+21del
XM_011523003.3:c.467+20_467+21del XP_011521305.1:n.467+20_467+21del
NM_020988.3:c.593+20_593+21del MANE Select NP_066268.1:n.593+20_593+21del
NM_138736.3:c.593+20_593+21del NP_620073.2:n.593+20_593+21del