Canonical Allele Identifier: CA1051334579
Gene: CPOX HGNC NCBI

Linked Data

gnomAD v3: 3-98585611-AATGCC-A
gnomAD v4: 3-98585611-AATGCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585612_98585616del , CM000665.2:g.98585612_98585616del GRCh38
NC_000003.11:g.98304456_98304460del , CM000665.1:g.98304456_98304460del GRCh37
NC_000003.10:g.99787146_99787150del NCBI36
NG_015994.1:g.12996_13000del
NG_015994.2:g.12996_13000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647941.2:c.997_1001del MANE Select ENSP00000497326.1:p.Gly333TrpfsTer6
ENST00000264193.2:c.997_1001del ENSP00000264193.2:p.Gly333TrpfsTer6
ENST00000510489.1:n.247_251del
NM_000097.5:c.997_1001del NP_000088.3:p.Gly333TrpfsTer6
XM_005247125.3:c.997_1001del XP_005247182.1:p.Gly333TrpfsTer6
NM_000097.7:c.997_1001del MANE Select NP_000088.3:p.Gly333TrpfsTer6
XM_005247125.4:c.997_1001del XP_005247182.1:p.Gly333TrpfsTer6
XR_001740025.2:n.1168_1172del
XR_001740026.1:n.1732_1736del
XR_001740027.1:n.1272_1276del
XR_001740028.1:n.1238_1242del
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