Canonical Allele Identifier: CA214448
Gene: GNAO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 66114
ClinVar RCV Id: RCV000056407
dbSNP Id: rs587777056
MyVariant Identifiers: chr16:g.56368748_56368768del (hg19) chr16:g.56334836_56334856del (hg38)
PubMed: PMID:23993195
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56334836_56334856del , CM000678.2:g.56334836_56334856del GRCh38
NC_000016.9:g.56368748_56368768del , CM000678.1:g.56368748_56368768del GRCh37
NC_000016.8:g.54926249_54926269del NCBI36
NG_042800.1:g.148498_148518del

Transcript Alleles

HGVS Amino-acid change
ENST00000262494.13:c.572_592del ENSP00000262494.7:p.Thr191_Phe197del
ENST00000262493.12:c.572_592del MANE Select ENSP00000262493.6:p.Thr191_Phe197del
ENST00000262494.12:c.572_592del ENSP00000262494.7:p.Thr191_Phe197del
ENST00000562316.6:c.239_259del ENSP00000457238.2:p.Thr80_Phe86del
ENST00000638185.1:n.787_807del
ENST00000638210.1:n.872_892del
ENST00000638705.1:c.572_592del ENSP00000491223.1:p.Thr191_Phe197del
ENST00000638836.1:n.482_502del
ENST00000639055.1:n.1293_1313del
ENST00000639251.1:n.473_493del
ENST00000639268.1:c.229-1895_229-1875del
ENST00000639341.1:c.97_117del
ENST00000639770.1:c.610_630del ENSP00000491999.1:n.610_630del
ENST00000640390.1:n.502_522del
ENST00000640893.1:c.411_431del ENSP00000492677.1:p.His137_Leu143del
ENST00000262493.10:c.572_592del ENSP00000262493.6:p.Thr191_Phe197del
ENST00000262494.11:c.572_592del ENSP00000262494.7:p.Thr191_Phe197del
ENST00000562316.5:c.311_331del ENSP00000457238.1:p.Thr104_Phe110del
NM_020988.2:c.572_592del NP_066268.1:p.Thr191_Phe197del
NM_138736.2:c.572_592del NP_620073.2:p.Thr191_Phe197del
XM_011523003.1:c.446_466del XP_011521305.1:p.Thr149_Phe155del
XM_011523003.3:c.446_466del XP_011521305.1:p.Thr149_Phe155del
NM_020988.3:c.572_592del MANE Select NP_066268.1:p.Thr191_Phe197del
NM_138736.3:c.572_592del NP_620073.2:p.Thr191_Phe197del
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Search 100 bp 3'