Canonical Allele Identifier: CA8739986
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs760224994
ExAC: 17:71192874 G / GC
gnomAD v2: 17-71192874-G-GC
gnomAD v4: 17-73196735-G-GC
MyVariant Identifiers: chr17:g.71192874_71192875insC (hg19) chr17:g.73196735_73196736insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196737dup , CM000679.2:g.73196737dup GRCh38
NC_000017.10:g.71192876dup , CM000679.1:g.71192876dup GRCh37
NC_000017.9:g.68704471dup NCBI36
NG_008971.1:g.8704dup

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.546dup MANE Select ENSP00000299886.4:p.Ala183ArgfsTer11
ENST00000299886.8:c.546dup ENSP00000299886.4:p.Ala183ArgfsTer11
ENST00000438720.7:c.544dup
ENST00000582587.2:c.543dup
ENST00000618996.4:c.546dup ENSP00000479450.1:p.Ala183ArgfsTer11
NM_018714.2:c.546dup NP_061184.1:p.Ala183ArgfsTer11
NM_018714.3:c.546dup MANE Select NP_061184.1:p.Ala183ArgfsTer11
Search 100 bp 5'
Search 100 bp 3'