Canonical Allele Identifier: CA2639622912

Gene: COG1

Linked Data

• gnomAD v4: 17-73196382-G-GTACTGAACCCAGCTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196385_73196401dup , CM000679.2:g.73196385_73196401dup	GRCh38
NC_000017.10:g.71192524_71192540dup , CM000679.1:g.71192524_71192540dup	GRCh37
NC_000017.9:g.68704119_68704135dup	NCBI36
NG_008971.1:g.8352_8368dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.316-122_316-106dup MANE Select	ENSP00000299886.4:n.316-122_316-106dup
ENST00000299886.8:c.316-122_316-106dup	ENSP00000299886.4:n.316-122_316-106dup
ENST00000438720.7:c.314-122_314-106dup
ENST00000582587.2:c.293-102_293-86dup
ENST00000618996.4:c.316-122_316-106dup	ENSP00000479450.1:n.316-122_316-106dup
NM_018714.2:c.316-122_316-106dup	NP_061184.1:n.316-122_316-106dup
NM_018714.3:c.316-122_316-106dup MANE Select	NP_061184.1:n.316-122_316-106dup