Canonical Allele Identifier: CA981690557

Gene: COX10

Linked Data

• gnomAD v3: 17-14077001-GCAA-G
• gnomAD v4: 17-14077001-GCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14077002_14077004del , CM000679.2:g.14077002_14077004del	GRCh38
NC_000017.10:g.13980319_13980321del , CM000679.1:g.13980319_13980321del	GRCh37
NC_000017.9:g.13921044_13921046del	NCBI36
NG_008034.1:g.12601_12603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.445_447del MANE Select	ENSP00000261643.3:p.Gln149del
ENST00000664217.1:c.445_447del	ENSP00000499396.1:p.Gln149del
ENST00000670279.1:c.445_447del	ENSP00000499450.1:p.Gln149del
ENST00000261643.7:c.445_447del	ENSP00000261643.3:p.Gln149del
ENST00000429152.6:c.445_447del	ENSP00000397750.2:p.Gln149del
ENST00000580561.1:c.177+2546_177+2548del	ENSP00000462190.1:n.177+2546_177+2548del
ENST00000581931.5:c.445_447del	ENSP00000462512.1:p.Gln149del
NM_001303.3:c.445_447del	NP_001294.2:p.Gln149del
XM_005256458.1:c.445_447del	XP_005256515.1:p.Gln149del
XM_011523657.1:c.445_447del	XP_011521959.1:p.Gln149del
XM_011523658.1:c.-7_-5del	XP_011521960.1:n.-7_-5del
XR_933974.1:n.548_550del
XR_933975.1:n.548_550del
NM_001303.4:c.445_447del MANE Select	NP_001294.2:p.Gln149del