Canonical Allele Identifier: CA1083159522
Gene: SAP30L HGNC NCBI

Linked Data

dbSNP Id: rs1757287970
gnomAD v3: 5-154457493-T-TA
gnomAD v4: 5-154457493-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154457495dup , CM000667.2:g.154457495dup GRCh38
NC_000005.9:g.153837055dup , CM000667.1:g.153837055dup GRCh37
NC_000005.8:g.153817248dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297109.11:c.*1467dup MANE Select ENSP00000297109.5:n.*1467dup
ENST00000297109.10:c.*1467dup ENSP00000297109.5:n.*1467dup
NM_001131062.1:c.*1467dup NP_001124534.1:n.*1467dup
NM_001131063.1:c.*1467dup NP_001124535.1:n.*1467dup
NM_024632.5:c.*1467dup NP_078908.1:n.*1467dup
NR_024084.1:n.2711dup
NM_024632.6:c.*1467dup MANE Select NP_078908.1:n.*1467dup
NM_001131062.2:c.*1467dup NP_001124534.1:n.*1467dup
NM_001131063.2:c.*1467dup NP_001124535.1:n.*1467dup
NR_024084.2:n.2671dup
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