Canonical Allele Identifier: CA2573137533
Community Standard Title: NM_000097.7(CPOX):c.638del (p.Asn213IlefsTer10)
Gene: CPOX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98591076del , CM000665.2:g.98591076del GRCh38
NC_000003.11:g.98309920del , CM000665.1:g.98309920del GRCh37
NC_000003.10:g.99792610del NCBI36
NG_015994.1:g.7538del
NG_015994.2:g.7538del

Transcript Alleles

HGVS Amino-acid Change
NM_000097.7:c.638del MANE Select NP_000088.3:p.Asn213IlefsTer10
ENST00000647941.2:c.638del MANE Select ENSP00000497326.1:p.Asn213IlefsTer10
NM_000097.5:c.638del NP_000088.3:p.Asn213IlefsTer10
ENST00000264193.2:c.638del ENSP00000264193.2:p.Asn213IlefsTer10
ENST00000513674.1:c.508-9del ENSP00000424924.1:n.508-9del
ENST00000515041.1:n.744del
XM_005247125.3:c.638del XP_005247182.1:p.Asn213IlefsTer10
XM_005247125.4:c.638del XP_005247182.1:p.Asn213IlefsTer10
XM_011512437.1:c.638del XP_011510739.1:p.Asn213IlefsTer10
XR_001740025.2:n.809del
XR_001740026.1:n.814del
XR_001740027.1:n.818del
XR_001740028.1:n.818del