Canonical Allele Identifier: CA2578421317
Gene: SIL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947049_138947050del , CM000667.2:g.138947049_138947050del GRCh38
NC_000005.9:g.138282738_138282739del , CM000667.1:g.138282738_138282739del GRCh37
NC_000005.8:g.138310637_138310638del NCBI36
NG_008112.1:g.256329_256330del
NG_008112.2:g.256329_256330del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*69_*70del MANE Select ENSP00000378294.2:n.*69_*70del
ENST00000265195.9:c.*69_*70del ENSP00000265195.5:n.*69_*70del
ENST00000394817.6:c.*69_*70del ENSP00000378294.2:n.*69_*70del
ENST00000509534.5:c.*69_*70del ENSP00000426858.1:n.*69_*70del
ENST00000515008.1:n.790_791del
NM_001037633.1:c.*69_*70del NP_001032722.1:n.*69_*70del
NM_022464.4:c.*69_*70del NP_071909.1:n.*69_*70del
XM_011543570.1:c.*69_*70del XP_011541872.1:n.*69_*70del
XM_011543570.2:c.*69_*70del XP_011541872.1:n.*69_*70del
XM_024446164.1:c.*69_*70del XP_024301932.1:n.*69_*70del
NM_022464.5:c.*69_*70del MANE Select NP_071909.1:n.*69_*70del
NM_001037633.2:c.*69_*70del NP_001032722.1:n.*69_*70del
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