Canonical Allele Identifier: CA2675501278

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946730-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946735del , CM000667.2:g.138946735del	GRCh38
NC_000005.9:g.138282424del , CM000667.1:g.138282424del	GRCh37
NC_000005.8:g.138310323del	NCBI36
NG_008112.1:g.256646del
NG_008112.2:g.256646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*386del MANE Select	ENSP00000378294.2:n.*386del
ENST00000394817.6:c.*386del	ENSP00000378294.2:n.*386del
NM_001037633.1:c.*386del	NP_001032722.1:n.*386del
NM_022464.4:c.*386del	NP_071909.1:n.*386del
XM_011543570.2:c.*386del	XP_011541872.1:n.*386del
XM_024446164.1:c.*386del	XP_024301932.1:n.*386del
NM_022464.5:c.*386del MANE Select	NP_071909.1:n.*386del
NM_001037633.2:c.*386del	NP_001032722.1:n.*386del