Canonical Allele Identifier: CA774876085
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1382136422
gnomAD v4: 17-73196455-TGA-T
MyVariant Identifiers: chr17:g.71192595_71192596del (hg19) chr17:g.73196456_73196457del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196458_73196459del , CM000679.2:g.73196458_73196459del GRCh38
NC_000017.10:g.71192597_71192598del , CM000679.1:g.71192597_71192598del GRCh37
NC_000017.9:g.68704192_68704193del NCBI36
NG_008971.1:g.8425_8426del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-49_316-48del MANE Select ENSP00000299886.4:n.316-49_316-48del
ENST00000299886.8:c.316-49_316-48del ENSP00000299886.4:n.316-49_316-48del
ENST00000438720.7:c.314-49_314-48del
ENST00000582587.2:c.293-29_293-28del
ENST00000618996.4:c.316-49_316-48del ENSP00000479450.1:n.316-49_316-48del
NM_018714.2:c.316-49_316-48del NP_061184.1:n.316-49_316-48del
NM_018714.3:c.316-49_316-48del MANE Select NP_061184.1:n.316-49_316-48del
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