Canonical Allele Identifier: CA2675501735

Gene: SIL1

Linked Data

• gnomAD v4: 5-138947256-GGGTCCTGACGGTAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947262_138947276del , CM000667.2:g.138947262_138947276del	GRCh38
NC_000005.9:g.138282951_138282965del , CM000667.1:g.138282951_138282965del	GRCh37
NC_000005.8:g.138310850_138310864del	NCBI36
NG_008112.1:g.256106_256120del
NG_008112.2:g.256106_256120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1232_1246del MANE Select	ENSP00000378294.2:p.Arg411_Asp415del
ENST00000265195.9:c.1232_1246del	ENSP00000265195.5:p.Arg411_Asp415del
ENST00000394817.6:c.1232_1246del	ENSP00000378294.2:p.Arg411_Asp415del
ENST00000509534.5:c.1253_1267del	ENSP00000426858.1:p.Arg418_Asp422del
ENST00000515008.1:n.567_581del
NM_001037633.1:c.1232_1246del	NP_001032722.1:p.Arg411_Asp415del
NM_022464.4:c.1232_1246del	NP_071909.1:p.Arg411_Asp415del
XM_011543570.1:c.1262_1276del	XP_011541872.1:p.Arg421_Asp425del
XM_011543570.2:c.1262_1276del	XP_011541872.1:p.Arg421_Asp425del
XM_024446164.1:c.1232_1246del	XP_024301932.1:p.Arg411_Asp415del
NM_022464.5:c.1232_1246del MANE Select	NP_071909.1:p.Arg411_Asp415del
NM_001037633.2:c.1232_1246del	NP_001032722.1:p.Arg411_Asp415del