Canonical Allele Identifier: CA2675501290
Gene: SIL1 HGNC NCBI

Linked Data

gnomAD v4: 5-138946732-T-TAGTG
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946732_138946733insAGTG , CM000667.2:g.138946732_138946733insAGTG GRCh38
NC_000005.9:g.138282421_138282422insAGTG , CM000667.1:g.138282421_138282422insAGTG GRCh37
NC_000005.8:g.138310320_138310321insAGTG NCBI36
NG_008112.1:g.256644_256645insCACT
NG_008112.2:g.256644_256645insCACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*384_*385insCACT MANE Select ENSP00000378294.2:n.*384_*385insCACT
ENST00000394817.6:c.*384_*385insCACT ENSP00000378294.2:n.*384_*385insCACT
NM_001037633.1:c.*384_*385insCACT NP_001032722.1:n.*384_*385insCACT
NM_022464.4:c.*384_*385insCACT NP_071909.1:n.*384_*385insCACT
XM_011543570.2:c.*384_*385insCACT XP_011541872.1:n.*384_*385insCACT
XM_024446164.1:c.*384_*385insCACT XP_024301932.1:n.*384_*385insCACT
NM_022464.5:c.*384_*385insCACT MANE Select NP_071909.1:n.*384_*385insCACT
NM_001037633.2:c.*384_*385insCACT NP_001032722.1:n.*384_*385insCACT
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