Canonical Allele Identifier: CA8402371

Gene: COX10

Linked Data

• dbSNP Id: rs772463223
• ExAC: 17:14005554 AATC / A
• gnomAD v2: 17-14005554-AATC-A
• gnomAD v3: 17-14102237-AATC-A
• gnomAD v4: 17-14102237-AATC-A
• MyVariant Identifiers: chr17:g.14005555_14005557del (hg19) ; chr17:g.14102238_14102240del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102239_14102241del , CM000679.2:g.14102239_14102241del	GRCh38
NC_000017.10:g.14005556_14005558del , CM000679.1:g.14005556_14005558del	GRCh37
NC_000017.9:g.13946281_13946283del	NCBI36
NG_008034.1:g.37838_37840del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.621_623del MANE Select	ENSP00000261643.3:p.Asn207_Gln208delinsLy...
ENST00000664217.1:c.621_623del	ENSP00000499396.1:p.Asn207_Gln208delinsLy...
ENST00000670279.1:c.621_623del	ENSP00000499450.1:p.Asn207_Gln208delinsLy...
ENST00000261643.7:c.621_623del	ENSP00000261643.3:p.Asn207_Gln208delinsLy...
ENST00000580561.1:c.*110_*112del	ENSP00000462190.1:n.*110_*112del
ENST00000581931.5:c.499+25183_499+25185del	ENSP00000462512.1:n.499+25183_499+25185de...
NM_001303.3:c.621_623del	NP_001294.2:p.Asn207_Gln208delinsLys
XM_005256458.1:c.621_623del	XP_005256515.1:p.Asn207_Gln208delinsLys
XM_011523657.1:c.621_623del	XP_011521959.1:p.Asn207_Gln208delinsLys
XM_011523658.1:c.48+25183_48+25185del	XP_011521960.1:n.48+25183_48+25185del
XR_933974.1:n.724_726del
XR_933975.1:n.724_726del
NM_001303.4:c.621_623del MANE Select	NP_001294.2:p.Asn207_Gln208delinsLys