Canonical Allele Identifier: CA2580072876

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947466del , CM000667.2:g.138947466del	GRCh38
NC_000005.9:g.138283155del , CM000667.1:g.138283155del	GRCh37
NC_000005.8:g.138311054del	NCBI36
NG_008112.1:g.255912del
NG_008112.2:g.255912del

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.1038del MANE Select	NP_071909.1:p.Glu347ArgfsTer6
ENST00000394817.7:c.1038del MANE Select	ENSP00000378294.2:p.Glu347ArgfsTer6
NM_001037633.1:c.1038del	NP_001032722.1:p.Glu347ArgfsTer6
NM_001037633.2:c.1038del	NP_001032722.1:p.Glu347ArgfsTer6
NM_022464.4:c.1038del	NP_071909.1:p.Glu347ArgfsTer6
ENST00000265195.9:c.1038del	ENSP00000265195.5:p.Glu347ArgfsTer6
ENST00000394817.6:c.1038del	ENSP00000378294.2:p.Glu347ArgfsTer6
ENST00000509534.5:c.1059del	ENSP00000426858.1:p.Glu354ArgfsTer6
ENST00000515008.1:n.373del
XM_011543570.1:c.1068del	XP_011541872.1:p.Glu357ArgfsTer6
XM_011543570.2:c.1068del	XP_011541872.1:p.Glu357ArgfsTer6
XM_024446164.1:c.1038del	XP_024301932.1:p.Glu347ArgfsTer6