Canonical Allele Identifier: CA16621691
Gene: GNAO1 HGNC NCBI

Linked Data

dbSNP Id: rs1064797211
MyVariant Identifiers: chr16:g.56370722_56370723del (hg19) chr16:g.56336810_56336811del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56336813_56336814del , CM000678.2:g.56336813_56336814del GRCh38
NC_000016.9:g.56370725_56370726del , CM000678.1:g.56370725_56370726del GRCh37
NC_000016.8:g.54928226_54928227del NCBI36
NG_042800.1:g.150475_150476del

Transcript Alleles

HGVS Amino-acid change
ENST00000262494.13:c.676_677del ENSP00000262494.7:p.Val226ArgfsTer6
ENST00000262493.12:c.676_677del MANE Select ENSP00000262493.6:p.Val226ArgfsTer6
ENST00000262494.12:c.676_677del ENSP00000262494.7:p.Val226ArgfsTer6
ENST00000562316.6:c.343_344del ENSP00000457238.2:p.Val115ArgfsTer6
ENST00000568375.2:c.68_69del
ENST00000638185.1:n.891_892del
ENST00000638210.1:n.976_977del
ENST00000638705.1:c.676_677del ENSP00000491223.1:p.Val226ArgfsTer6
ENST00000638836.1:n.586_587del
ENST00000639055.1:n.1397_1398del
ENST00000639251.1:n.577_578del
ENST00000639268.1:c.311_312del
ENST00000639341.1:c.201_202del
ENST00000639770.1:c.714_715del ENSP00000491999.1:n.714_715del
ENST00000640390.1:n.606_607del
ENST00000640469.1:c.40_41del ENSP00000491875.1:p.Val14ArgfsTer6
ENST00000640560.1:n.452_453del
ENST00000640893.1:c.*74_*75del ENSP00000492677.1:n.*74_*75del
ENST00000262493.10:c.676_677del ENSP00000262493.6:p.Val226ArgfsTer6
ENST00000262494.11:c.676_677del ENSP00000262494.7:p.Val226ArgfsTer6
ENST00000568375.1:n.68_69del
NM_020988.2:c.676_677del NP_066268.1:p.Val226ArgfsTer6
NM_138736.2:c.676_677del NP_620073.2:p.Val226ArgfsTer6
XM_011523003.1:c.550_551del XP_011521305.1:p.Val184ArgfsTer6
XM_011523003.3:c.550_551del XP_011521305.1:p.Val184ArgfsTer6
NM_020988.3:c.676_677del MANE Select NP_066268.1:p.Val226ArgfsTer6
NM_138736.3:c.676_677del NP_620073.2:p.Val226ArgfsTer6
Search 100 bp 5'
Search 100 bp 3'