Canonical Allele Identifier: CA2675501388

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946801-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946803_138946804del , CM000667.2:g.138946803_138946804del	GRCh38
NC_000005.9:g.138282492_138282493del , CM000667.1:g.138282492_138282493del	GRCh37
NC_000005.8:g.138310391_138310392del	NCBI36
NG_008112.1:g.256574_256575del
NG_008112.2:g.256574_256575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*314_*315del MANE Select	ENSP00000378294.2:n.*314_*315del
ENST00000265195.9:c.*314_*315del	ENSP00000265195.5:n.*314_*315del
ENST00000394817.6:c.*314_*315del	ENSP00000378294.2:n.*314_*315del
NM_001037633.1:c.*314_*315del	NP_001032722.1:n.*314_*315del
NM_022464.4:c.*314_*315del	NP_071909.1:n.*314_*315del
XM_011543570.2:c.*314_*315del	XP_011541872.1:n.*314_*315del
XM_024446164.1:c.*314_*315del	XP_024301932.1:n.*314_*315del
NM_022464.5:c.*314_*315del MANE Select	NP_071909.1:n.*314_*315del
NM_001037633.2:c.*314_*315del	NP_001032722.1:n.*314_*315del