Canonical Allele Identifier: CA726311411

Gene: COX10

Linked Data

• dbSNP Id: rs1264479304
• gnomAD v3: 17-14069514-CA-C
• gnomAD v4: 17-14069514-CA-C
• MyVariant Identifiers: chr17:g.13972832del (hg19) ; chr17:g.14069515del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14069515del , CM000679.2:g.14069515del	GRCh38
NC_000017.10:g.13972832del , CM000679.1:g.13972832del	GRCh37
NC_000017.9:g.13913557del	NCBI36
NG_008034.1:g.5114del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.-91del MANE Select	ENSP00000261643.3:n.-91del
ENST00000664217.1:c.-91del	ENSP00000499396.1:n.-91del
ENST00000670279.1:c.-91del	ENSP00000499450.1:n.-91del
ENST00000429152.6:c.-91del	ENSP00000397750.2:n.-91del
NM_001303.3:c.-91del	NP_001294.2:n.-91del
XM_005256458.1:c.-91del	XP_005256515.1:n.-91del
XM_011523657.1:c.-91del	XP_011521959.1:n.-91del
XM_011523658.1:c.-542del	XP_011521960.1:n.-542del
XR_933974.1:n.13del
XR_933975.1:n.13del
NM_001303.4:c.-91del MANE Select	NP_001294.2:n.-91del