Canonical Allele Identifier: CA281434002
Community Standard Title: NM_020988.3(GNAO1):c.723+6642_723+6643dup
Gene: GNAO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56343502_56343503dup , CM000678.2:g.56343502_56343503dup GRCh38
NC_000016.9:g.56377414_56377415dup , CM000678.1:g.56377414_56377415dup GRCh37
NC_000016.8:g.54934915_54934916dup NCBI36
NG_042800.1:g.157164_157165dup

Transcript Alleles

HGVS Amino-acid Change
NM_020988.3:c.723+6642_723+6643dup MANE Select NP_066268.1:n.723+6642_723+6643dup
ENST00000262493.12:c.723+6642_723+6643dup MANE Select ENSP00000262493.6:n.723+6642_723+6643dup
NM_020988.2:c.723+6642_723+6643dup NP_066268.1:n.723+6642_723+6643dup
NM_138736.2:c.878-261_878-260dup NP_620073.2:n.878-261_878-260dup
NM_138736.3:c.878-261_878-260dup NP_620073.2:n.878-261_878-260dup
ENST00000262493.10:c.723+6642_723+6643dup ENSP00000262493.6:n.723+6642_723+6643dup
ENST00000262494.11:c.878-261_878-260dup ENSP00000262494.7:n.878-261_878-260dup
ENST00000262494.12:c.878-261_878-260dup ENSP00000262494.7:n.878-261_878-260dup
ENST00000262494.13:c.878-261_878-260dup ENSP00000262494.7:n.878-261_878-260dup
ENST00000562316.6:c.390+6642_390+6643dup ENSP00000457238.2:n.390+6642_390+6643dup
ENST00000564727.2:c.27+6642_27+6643dup ENSP00000454971.2:n.27+6642_27+6643dup
ENST00000564798.1:n.693-261_693-260dup
ENST00000564798.2:n.693-261_693-260dup
ENST00000568375.1:n.115+6642_115+6643dup
ENST00000568375.2:c.115+6642_115+6643dup
ENST00000638185.1:n.938+6642_938+6643dup
ENST00000638210.1:n.1023+6642_1023+6643dup
ENST00000638705.1:c.723+6642_723+6643dup ENSP00000491223.1:n.723+6642_723+6643dup
ENST00000638836.1:n.633+6642_633+6643dup
ENST00000639055.1:n.1444+6642_1444+6643dup
ENST00000639251.1:n.624+6642_624+6643dup
ENST00000639268.1:c.358+6642_358+6643dup
ENST00000639341.1:c.248+6642_248+6643dup
ENST00000639770.1:c.761+6642_761+6643dup ENSP00000491999.1:n.761+6642_761+6643dup
ENST00000639787.1:n.223-261_223-260dup
ENST00000640390.1:n.653+6642_653+6643dup
ENST00000640469.1:c.87+6642_87+6643dup ENSP00000491875.1:n.87+6642_87+6643dup
ENST00000640560.1:n.499+6642_499+6643dup
ENST00000640893.1:c.*121+6642_*121+6643dup ENSP00000492677.1:n.*121+6642_*121+6643dup
XM_011523003.1:c.597+6642_597+6643dup XP_011521305.1:n.597+6642_597+6643dup
XM_011523003.3:c.597+6642_597+6643dup XP_011521305.1:n.597+6642_597+6643dup