Canonical Allele Identifier: CA288739428

Gene: COX10

Linked Data

• dbSNP Id: rs1054644695
• gnomAD v3: 17-14102003-GTTA-G
• gnomAD v4: 17-14102003-GTTA-G
• MyVariant Identifiers: chr17:g.14005321_14005323del (hg19) ; chr17:g.14102004_14102006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102007_14102009del , CM000679.2:g.14102007_14102009del	GRCh38
NC_000017.10:g.14005324_14005326del , CM000679.1:g.14005324_14005326del	GRCh37
NC_000017.9:g.13946049_13946051del	NCBI36
NG_008034.1:g.37606_37608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.500-111_500-109del MANE Select	ENSP00000261643.3:n.500-111_500-109del
ENST00000664217.1:c.500-111_500-109del	ENSP00000499396.1:n.500-111_500-109del
ENST00000670279.1:c.500-111_500-109del	ENSP00000499450.1:n.500-111_500-109del
ENST00000261643.7:c.500-111_500-109del	ENSP00000261643.3:n.500-111_500-109del
ENST00000580561.1:c.178-111_178-109del	ENSP00000462190.1:n.178-111_178-109del
ENST00000581931.5:c.499+24951_499+24953del	ENSP00000462512.1:n.499+24951_499+24953del
NM_001303.3:c.500-111_500-109del	NP_001294.2:n.500-111_500-109del
XM_005256458.1:c.500-111_500-109del	XP_005256515.1:n.500-111_500-109del
XM_011523657.1:c.500-111_500-109del	XP_011521959.1:n.500-111_500-109del
XM_011523658.1:c.48+24951_48+24953del	XP_011521960.1:n.48+24951_48+24953del
XR_933974.1:n.603-111_603-109del
XR_933975.1:n.603-111_603-109del
NM_001303.4:c.500-111_500-109del MANE Select	NP_001294.2:n.500-111_500-109del