Canonical Allele Identifier: CA625321024

Gene: COX10

Linked Data

• dbSNP Id: rs1567585622
• gnomAD v2: 17-13980124-C-CT
• gnomAD v4: 17-14076807-C-CT
• MyVariant Identifiers: chr17:g.13980124_13980125insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076809dup , CM000679.2:g.14076809dup	GRCh38
NC_000017.10:g.13980126dup , CM000679.1:g.13980126dup	GRCh37
NC_000017.9:g.13920851dup	NCBI36
NG_008034.1:g.12408dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.252dup MANE Select	ENSP00000261643.3:p.Glu85Ter
ENST00000664217.1:c.252dup	ENSP00000499396.1:p.Glu85Ter
ENST00000670279.1:c.252dup	ENSP00000499450.1:p.Glu85Ter
ENST00000261643.7:c.252dup	ENSP00000261643.3:p.Glu85Ter
ENST00000429152.6:c.252dup	ENSP00000397750.2:p.Glu85Ter
ENST00000580561.1:c.177+2353dup	ENSP00000462190.1:n.177+2353dup
ENST00000581931.5:c.252dup	ENSP00000462512.1:p.Glu85Ter
NM_001303.3:c.252dup	NP_001294.2:p.Glu85Ter
XM_005256458.1:c.252dup	XP_005256515.1:p.Glu85Ter
XM_011523657.1:c.252dup	XP_011521959.1:p.Glu85Ter
XM_011523658.1:c.-200dup	XP_011521960.1:n.-200dup
XR_933974.1:n.355dup
XR_933975.1:n.355dup
NM_001303.4:c.252dup MANE Select	NP_001294.2:p.Glu85Ter