Canonical Allele Identifier: CA726315819

Gene: COX10

Linked Data

• dbSNP Id: rs1360940557
• MyVariant Identifiers: chr17:g.13980095_13980105del (hg19) ; chr17:g.14076778_14076788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076781_14076791del , CM000679.2:g.14076781_14076791del	GRCh38
NC_000017.10:g.13980098_13980108del , CM000679.1:g.13980098_13980108del	GRCh37
NC_000017.9:g.13920823_13920833del	NCBI36
NG_008034.1:g.12380_12390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.224_234del MANE Select	ENSP00000261643.3:p.Lys75SerfsTer7
ENST00000664217.1:c.224_234del	ENSP00000499396.1:p.Lys75SerfsTer7
ENST00000670279.1:c.224_234del	ENSP00000499450.1:p.Lys75SerfsTer7
ENST00000261643.7:c.224_234del	ENSP00000261643.3:p.Lys75SerfsTer7
ENST00000429152.6:c.224_234del	ENSP00000397750.2:p.Lys75SerfsTer7
ENST00000580561.1:c.177+2325_177+2335del	ENSP00000462190.1:n.177+2325_177+2335del
ENST00000581931.5:c.224_234del	ENSP00000462512.1:p.Lys75SerfsTer7
NM_001303.3:c.224_234del	NP_001294.2:p.Lys75SerfsTer7
XM_005256458.1:c.224_234del	XP_005256515.1:p.Lys75SerfsTer7
XM_011523657.1:c.224_234del	XP_011521959.1:p.Lys75SerfsTer7
XM_011523658.1:c.-228_-218del	XP_011521960.1:n.-228_-218del
XR_933974.1:n.327_337del
XR_933975.1:n.327_337del
NM_001303.4:c.224_234del MANE Select	NP_001294.2:p.Lys75SerfsTer7