Canonical Allele Identifier: CA774876022
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1355474001
gnomAD v3: 17-73196241-TG-T
gnomAD v4: 17-73196241-TG-T
MyVariant Identifiers: chr17:g.71192381del (hg19) chr17:g.73196242del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196245del , CM000679.2:g.73196245del GRCh38
NC_000017.10:g.71192384del , CM000679.1:g.71192384del GRCh37
NC_000017.9:g.68703979del NCBI36
NG_008971.1:g.8212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-262del MANE Select ENSP00000299886.4:n.316-262del
ENST00000299886.8:c.316-262del ENSP00000299886.4:n.316-262del
ENST00000438720.7:c.314-262del
ENST00000582587.2:c.293-242del
ENST00000618996.4:c.316-262del ENSP00000479450.1:n.316-262del
NM_018714.2:c.316-262del NP_061184.1:n.316-262del
NM_018714.3:c.316-262del MANE Select NP_061184.1:n.316-262del
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