Canonical Allele Identifier: CA2665603967
Gene: SHISA5 HGNC NCBI

Linked Data

gnomAD v4: 3-48467807-AATGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467813_48467816del , CM000665.2:g.48467813_48467816del GRCh38
NC_000003.11:g.48509212_48509215del , CM000665.1:g.48509212_48509215del GRCh37
NC_000003.10:g.48484216_48484219del NCBI36
NG_009820.1:g.6984_6987del
NG_033100.1:g.38050_38053del
NG_009820.2:g.6984_6987del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296444.6:c.*1296_*1299del ENSP00000296444.2:n.*1296_*1299del
ENST00000619810.4:c.*1296_*1299del ENSP00000484992.1:n.*1296_*1299del
NM_001272065.1:c.*1296_*1299del NP_001258994.1:n.*1296_*1299del
NM_001272066.1:c.*1296_*1299del NP_001258995.1:n.*1296_*1299del
NM_001272067.1:c.*1296_*1299del NP_001258996.1:n.*1296_*1299del
NM_001272068.1:c.*1296_*1299del NP_001258997.1:n.*1296_*1299del
NM_001272082.1:c.*1296_*1299del NP_001259011.1:n.*1296_*1299del
NM_001272083.1:c.*1527_*1530del NP_001259012.1:n.*1527_*1530del
NM_016479.4:c.*1296_*1299del NP_057563.3:n.*1296_*1299del
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