Canonical Allele Identifier: CA627320260
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1386355248
gnomAD v2: 17-71192398-GA-G
gnomAD v3: 17-73196259-GA-G
gnomAD v4: 17-73196259-GA-G
MyVariant Identifiers: chr17:g.71192399del (hg19) chr17:g.73196260del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196262del , CM000679.2:g.73196262del GRCh38
NC_000017.10:g.71192401del , CM000679.1:g.71192401del GRCh37
NC_000017.9:g.68703996del NCBI36
NG_008971.1:g.8229del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-245del MANE Select ENSP00000299886.4:n.316-245del
ENST00000299886.8:c.316-245del ENSP00000299886.4:n.316-245del
ENST00000438720.7:c.314-245del
ENST00000582587.2:c.293-225del
ENST00000618996.4:c.316-245del ENSP00000479450.1:n.316-245del
NM_018714.2:c.316-245del NP_061184.1:n.316-245del
NM_018714.3:c.316-245del MANE Select NP_061184.1:n.316-245del
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