Canonical Allele Identifier: CA981699417
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs1906788695
gnomAD v3: 17-14208851-GATGTT-G
gnomAD v4: 17-14208851-GATGTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208855_14208859del , CM000679.2:g.14208855_14208859del GRCh38
NC_000017.10:g.14112172_14112176del , CM000679.1:g.14112172_14112176del GRCh37
NC_000017.9:g.14052897_14052901del NCBI36
NG_008034.1:g.144454_144458del

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*281+76_*281+80del ENSP00000499396.1:n.*281+76_*281+80del
ENST00000670279.1:c.929-654_929-650del ENSP00000499450.1:n.929-654_929-650del
XR_933974.1:n.1032-654_1032-650del
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