Canonical Allele Identifier: CA2675501421
Gene: SIL1 HGNC NCBI

Linked Data

gnomAD v4: 5-138946844-G-GGGCCCAGGT
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946845_138946853dup , CM000667.2:g.138946845_138946853dup GRCh38
NC_000005.9:g.138282534_138282542dup , CM000667.1:g.138282534_138282542dup GRCh37
NC_000005.8:g.138310433_138310441dup NCBI36
NG_008112.1:g.256524_256532dup
NG_008112.2:g.256524_256532dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*264_*272dup MANE Select ENSP00000378294.2:n.*264_*272dup
ENST00000265195.9:c.*264_*272dup ENSP00000265195.5:n.*264_*272dup
ENST00000394817.6:c.*264_*272dup ENSP00000378294.2:n.*264_*272dup
NM_001037633.1:c.*264_*272dup NP_001032722.1:n.*264_*272dup
NM_022464.4:c.*264_*272dup NP_071909.1:n.*264_*272dup
XM_011543570.2:c.*264_*272dup XP_011541872.1:n.*264_*272dup
XM_024446164.1:c.*264_*272dup XP_024301932.1:n.*264_*272dup
NM_022464.5:c.*264_*272dup MANE Select NP_071909.1:n.*264_*272dup
NM_001037633.2:c.*264_*272dup NP_001032722.1:n.*264_*272dup
Search 100 bp 5'
Search 100 bp 3'