Canonical Allele Identifier: CA1586135548
Gene: SIL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139050848_139050849delinsAG , CM000667.2:g.139050848_139050849delinsAG GRCh38
NC_000005.9:g.138386537_138386538delinsAG , CM000667.1:g.138386537_138386538delinsAG GRCh37
NC_000005.8:g.138414436_138414437delinsAG NCBI36
NG_008112.1:g.152528_152529delinsCT
NG_008112.2:g.152528_152529delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.353+89_353+90delinsCT MANE Select ENSP00000378294.2:n.353+89_353+90delinsCT
ENST00000265195.9:c.353+89_353+90delinsCT ENSP00000265195.5:n.353+89_353+90delinsCT
ENST00000394817.6:c.353+89_353+90delinsCT ENSP00000378294.2:n.353+89_353+90delinsCT
ENST00000503732.1:n.180+89_180+90delinsCT
ENST00000508639.5:c.353+89_353+90delinsCT ENSP00000427371.1:n.353+89_353+90delinsCT
ENST00000509534.5:c.374+89_374+90delinsCT ENSP00000426858.1:n.374+89_374+90delinsCT
ENST00000513453.5:c.353+89_353+90delinsCT ENSP00000424014.1:n.353+89_353+90delinsCT
NM_001037633.1:c.353+89_353+90delinsCT NP_001032722.1:n.353+89_353+90delinsCT
NM_022464.4:c.353+89_353+90delinsCT NP_071909.1:n.353+89_353+90delinsCT
XM_011543570.1:c.383+89_383+90delinsCT XP_011541872.1:n.383+89_383+90delinsCT
XM_011543570.2:c.383+89_383+90delinsCT XP_011541872.1:n.383+89_383+90delinsCT
XM_024446164.1:c.353+89_353+90delinsCT XP_024301932.1:n.353+89_353+90delinsCT
NM_022464.5:c.353+89_353+90delinsCT MANE Select NP_071909.1:n.353+89_353+90delinsCT
NM_001037633.2:c.353+89_353+90delinsCT NP_001032722.1:n.353+89_353+90delinsCT