Canonical Allele Identifier: CA774876263
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1195603622
MyVariant Identifiers: chr17:g.71192784_71192785insA (hg19) chr17:g.73196645_73196646insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196646dup , CM000679.2:g.73196646dup GRCh38
NC_000017.10:g.71192785dup , CM000679.1:g.71192785dup GRCh37
NC_000017.9:g.68704380dup NCBI36
NG_008971.1:g.8613dup

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.455dup MANE Select ENSP00000299886.4:p.His152GlnfsTer12
ENST00000299886.8:c.455dup ENSP00000299886.4:p.His152GlnfsTer12
ENST00000438720.7:c.453dup
ENST00000582587.2:c.452dup
ENST00000618996.4:c.455dup ENSP00000479450.1:p.His152GlnfsTer12
NM_018714.2:c.455dup NP_061184.1:p.His152GlnfsTer12
NM_018714.3:c.455dup MANE Select NP_061184.1:p.His152GlnfsTer12
Search 100 bp 5'
Search 100 bp 3'