Canonical Allele Identifier: CA2675501810

Gene: SIL1

Linked Data

• gnomAD v4: 5-138947300-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947301del , CM000667.2:g.138947301del	GRCh38
NC_000005.9:g.138282990del , CM000667.1:g.138282990del	GRCh37
NC_000005.8:g.138310889del	NCBI36
NG_008112.1:g.256076del
NG_008112.2:g.256076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1202del MANE Select	ENSP00000378294.2:p.Leu401ArgfsTer5
ENST00000265195.9:c.1202del	ENSP00000265195.5:p.Leu401ArgfsTer5
ENST00000394817.6:c.1202del	ENSP00000378294.2:p.Leu401ArgfsTer5
ENST00000509534.5:c.1223del	ENSP00000426858.1:p.Leu408ArgfsTer5
ENST00000515008.1:n.537del
NM_001037633.1:c.1202del	NP_001032722.1:p.Leu401ArgfsTer5
NM_022464.4:c.1202del	NP_071909.1:p.Leu401ArgfsTer5
XM_011543570.1:c.1232del	XP_011541872.1:p.Leu411ArgfsTer5
XM_011543570.2:c.1232del	XP_011541872.1:p.Leu411ArgfsTer5
XM_024446164.1:c.1202del	XP_024301932.1:p.Leu401ArgfsTer5
NM_022464.5:c.1202del MANE Select	NP_071909.1:p.Leu401ArgfsTer5
NM_001037633.2:c.1202del	NP_001032722.1:p.Leu401ArgfsTer5