Canonical Allele Identifier: CA726258810

Gene: COX10

Linked Data

• dbSNP Id: rs1361235901
• gnomAD v3: 17-14208513-GT-G
• gnomAD v4: 17-14208513-GT-G
• MyVariant Identifiers: chr17:g.14111831del (hg19) ; chr17:g.14208514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14208516del , CM000679.2:g.14208516del	GRCh38
NC_000017.10:g.14111833del , CM000679.1:g.14111833del	GRCh37
NC_000017.9:g.14052558del	NCBI36
NG_008034.1:g.144115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.*1303del MANE Select	ENSP00000261643.3:n.*1303del
ENST00000664217.1:c.*56-38del	ENSP00000499396.1:n.*56-38del
ENST00000670279.1:c.929-993del	ENSP00000499450.1:n.929-993del
ENST00000261643.7:c.*1303del	ENSP00000261643.3:n.*1303del
NM_001303.3:c.*1303del	NP_001294.2:n.*1303del
XM_011523658.1:c.*1303del	XP_011521960.1:n.*1303del
XR_933974.1:n.1032-993del
NM_001303.4:c.*1303del MANE Select	NP_001294.2:n.*1303del