Canonical Allele Identifier: CA726258969
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs1253450695
gnomAD v3: 17-14208807-AAATTG-A
gnomAD v4: 17-14208807-AAATTG-A
MyVariant Identifiers: chr17:g.14112125_14112129del (hg19) chr17:g.14208808_14208812del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208809_14208813del , CM000679.2:g.14208809_14208813del GRCh38
NC_000017.10:g.14112126_14112130del , CM000679.1:g.14112126_14112130del GRCh37
NC_000017.9:g.14052851_14052855del NCBI36
NG_008034.1:g.144408_144412del

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*281+30_*281+34del ENSP00000499396.1:n.*281+30_*281+34del
ENST00000670279.1:c.929-700_929-696del ENSP00000499450.1:n.929-700_929-696del
XR_933974.1:n.1032-700_1032-696del
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