Canonical Allele Identifier: CA2675501539
Gene: SIL1 HGNC NCBI

Linked Data

gnomAD v4: 5-138946946-CAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946947_138946948del , CM000667.2:g.138946947_138946948del GRCh38
NC_000005.9:g.138282636_138282637del , CM000667.1:g.138282636_138282637del GRCh37
NC_000005.8:g.138310535_138310536del NCBI36
NG_008112.1:g.256429_256430del
NG_008112.2:g.256429_256430del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*169_*170del MANE Select ENSP00000378294.2:n.*169_*170del
ENST00000265195.9:c.*169_*170del ENSP00000265195.5:n.*169_*170del
ENST00000394817.6:c.*169_*170del ENSP00000378294.2:n.*169_*170del
NM_001037633.1:c.*169_*170del NP_001032722.1:n.*169_*170del
NM_022464.4:c.*169_*170del NP_071909.1:n.*169_*170del
XM_011543570.2:c.*169_*170del XP_011541872.1:n.*169_*170del
XM_024446164.1:c.*169_*170del XP_024301932.1:n.*169_*170del
NM_022464.5:c.*169_*170del MANE Select NP_071909.1:n.*169_*170del
NM_001037633.2:c.*169_*170del NP_001032722.1:n.*169_*170del
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