Canonical Allele Identifier: CA774876041

Gene: COG1

Linked Data

• dbSNP Id: rs1308780724
• gnomAD v3: 17-73196298-CGT-C
• gnomAD v4: 17-73196298-CGT-C
• MyVariant Identifiers: chr17:g.71192438_71192439del (hg19) ; chr17:g.73196299_73196300del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196303_73196304del , CM000679.2:g.73196303_73196304del	GRCh38
NC_000017.10:g.71192442_71192443del , CM000679.1:g.71192442_71192443del	GRCh37
NC_000017.9:g.68704037_68704038del	NCBI36
NG_008971.1:g.8270_8271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.316-204_316-203del MANE Select	ENSP00000299886.4:n.316-204_316-203del
ENST00000299886.8:c.316-204_316-203del	ENSP00000299886.4:n.316-204_316-203del
ENST00000438720.7:c.314-204_314-203del
ENST00000582587.2:c.293-184_293-183del
ENST00000618996.4:c.316-204_316-203del	ENSP00000479450.1:n.316-204_316-203del
NM_018714.2:c.316-204_316-203del	NP_061184.1:n.316-204_316-203del
NM_018714.3:c.316-204_316-203del MANE Select	NP_061184.1:n.316-204_316-203del