Canonical Allele Identifier: CA1586100094
Gene: SIL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946940_138946959delinsCGGCCACAGGGCTGTGCCCA , CM000667.2:g.138946940_138946959delinsCGGCCACAGGGCTGTGCCCA GRCh38
NC_000005.9:g.138282629_138282648delinsCGGCCACAGGGCTGTGCCCA , CM000667.1:g.138282629_138282648delinsCGGCCACAGGGCTGTGCCCA GRCh37
NC_000005.8:g.138310528_138310547delinsCGGCCACAGGGCTGTGCCCA NCBI36
NG_008112.1:g.256418_256437delinsTGGGCACAGCCCTGTGGCCG
NG_008112.2:g.256418_256437delinsTGGGCACAGCCCTGTGGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*158_*177delinsTGGGCACAGCCCTGTGGCCG MANE Select ENSP00000378294.2:n.*158_*177delinsTGGGCACAGCCCTGTGGCCG
ENST00000265195.9:c.*158_*177delinsTGGGCACAGCCCTGTGGCCG ENSP00000265195.5:n.*158_*177delinsTGGGCACAGCCCTGTGGCCG
ENST00000394817.6:c.*158_*177delinsTGGGCACAGCCCTGTGGCCG ENSP00000378294.2:n.*158_*177delinsTGGGCACAGCCCTGTGGCCG
NM_001037633.1:c.*158_*177delinsTGGGCACAGCCCTGTGGCCG NP_001032722.1:n.*158_*177delinsTGGGCACAGCCCTGTGGCCG
NM_022464.4:c.*158_*177delinsTGGGCACAGCCCTGTGGCCG NP_071909.1:n.*158_*177delinsTGGGCACAGCCCTGTGGCCG
XM_011543570.2:c.*158_*177delinsTGGGCACAGCCCTGTGGCCG XP_011541872.1:n.*158_*177delinsTGGGCACAGCCCTGTGGCCG
XM_024446164.1:c.*158_*177delinsTGGGCACAGCCCTGTGGCCG XP_024301932.1:n.*158_*177delinsTGGGCACAGCCCTGTGGCCG
NM_022464.5:c.*158_*177delinsTGGGCACAGCCCTGTGGCCG MANE Select NP_071909.1:n.*158_*177delinsTGGGCACAGCCCTGTGGCCG
NM_001037633.2:c.*158_*177delinsTGGGCACAGCCCTGTGGCCG NP_001032722.1:n.*158_*177delinsTGGGCACAGCCCTGTGGCCG