Canonical Allele Identifier: CA2578421324
Gene: SIL1 HGNC NCBI

Linked Data

gnomAD v4: 5-138947080-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947081del , CM000667.2:g.138947081del GRCh38
NC_000005.9:g.138282770del , CM000667.1:g.138282770del GRCh37
NC_000005.8:g.138310669del NCBI36
NG_008112.1:g.256296del
NG_008112.2:g.256296del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*36del MANE Select ENSP00000378294.2:n.*36del
ENST00000265195.9:c.*36del ENSP00000265195.5:n.*36del
ENST00000394817.6:c.*36del ENSP00000378294.2:n.*36del
ENST00000509534.5:c.*36del ENSP00000426858.1:n.*36del
ENST00000515008.1:n.757del
NM_001037633.1:c.*36del NP_001032722.1:n.*36del
NM_022464.4:c.*36del NP_071909.1:n.*36del
XM_011543570.1:c.*36del XP_011541872.1:n.*36del
XM_011543570.2:c.*36del XP_011541872.1:n.*36del
XM_024446164.1:c.*36del XP_024301932.1:n.*36del
NM_022464.5:c.*36del MANE Select NP_071909.1:n.*36del
NM_001037633.2:c.*36del NP_001032722.1:n.*36del
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