Canonical Allele Identifier: CA981699362
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs1906781825
gnomAD v3: 17-14208706-AATC-A
gnomAD v4: 17-14208706-AATC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208710_14208712del , CM000679.2:g.14208710_14208712del GRCh38
NC_000017.10:g.14112027_14112029del , CM000679.1:g.14112027_14112029del GRCh37
NC_000017.9:g.14052752_14052754del NCBI36
NG_008034.1:g.144309_144311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*212_*214del ENSP00000499396.1:n.*212_*214del
ENST00000670279.1:c.929-799_929-797del ENSP00000499450.1:n.929-799_929-797del
XR_933974.1:n.1032-799_1032-797del
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