Canonical Allele Identifier: CA726247248

Gene: COX10

Linked Data

• dbSNP Id: rs1395652439
• MyVariant Identifiers: chr17:g.14005444_14005445insA (hg19) ; chr17:g.14102127_14102128insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102129dup , CM000679.2:g.14102129dup	GRCh38
NC_000017.10:g.14005446dup , CM000679.1:g.14005446dup	GRCh37
NC_000017.9:g.13946171dup	NCBI36
NG_008034.1:g.37728dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.511dup MANE Select	ENSP00000261643.3:p.Ser171LysfsTer15
ENST00000664217.1:c.511dup	ENSP00000499396.1:p.Ser171LysfsTer15
ENST00000670279.1:c.511dup	ENSP00000499450.1:p.Ser171LysfsTer15
ENST00000261643.7:c.511dup	ENSP00000261643.3:p.Ser171LysfsTer15
ENST00000580561.1:c.189dup	ENSP00000462190.1:n.189dup
ENST00000581931.5:c.499+25073dup	ENSP00000462512.1:n.499+25073dup
NM_001303.3:c.511dup	NP_001294.2:p.Ser171LysfsTer15
XM_005256458.1:c.511dup	XP_005256515.1:p.Ser171LysfsTer15
XM_011523657.1:c.511dup	XP_011521959.1:p.Ser171LysfsTer15
XM_011523658.1:c.48+25073dup	XP_011521960.1:n.48+25073dup
XR_933974.1:n.614dup
XR_933975.1:n.614dup
NM_001303.4:c.511dup MANE Select	NP_001294.2:p.Ser171LysfsTer15