Canonical Allele Identifier: CA8739908
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs745468655
ExAC: 17:71189431 G / GGGC
gnomAD v2: 17-71189431-G-GGGC
gnomAD v4: 17-73193292-G-GGGC
MyVariant Identifiers: chr17:g.71189431_71189432insGGC (hg19) chr17:g.73193292_73193293insGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193293_73193295dup , CM000679.2:g.73193293_73193295dup GRCh38
NC_000017.10:g.71189432_71189434dup , CM000679.1:g.71189432_71189434dup GRCh37
NC_000017.9:g.68701027_68701029dup NCBI36
NG_008971.1:g.5260_5262dup

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.224_226dup MANE Select ENSP00000299886.4:p.Gly75_Leu76insArg
ENST00000299886.8:c.224_226dup ENSP00000299886.4:p.Gly75_Leu76insArg
ENST00000438720.7:c.222_224dup
ENST00000582587.2:c.201_203dup
ENST00000618996.4:c.224_226dup ENSP00000479450.1:p.Gly75_Leu76insArg
NM_018714.2:c.224_226dup NP_061184.1:p.Gly75_Leu76insArg
NM_018714.3:c.224_226dup MANE Select NP_061184.1:p.Gly75_Leu76insArg
Search 100 bp 5'
Search 100 bp 3'