Canonical Allele Identifier: CA2675501298

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946735-TCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946736_138946739del , CM000667.2:g.138946736_138946739del	GRCh38
NC_000005.9:g.138282425_138282428del , CM000667.1:g.138282425_138282428del	GRCh37
NC_000005.8:g.138310324_138310327del	NCBI36
NG_008112.1:g.256638_256641del
NG_008112.2:g.256638_256641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*378_*381del MANE Select	ENSP00000378294.2:n.*378_*381del
ENST00000394817.6:c.*378_*381del	ENSP00000378294.2:n.*378_*381del
NM_001037633.1:c.*378_*381del	NP_001032722.1:n.*378_*381del
NM_022464.4:c.*378_*381del	NP_071909.1:n.*378_*381del
XM_011543570.2:c.*378_*381del	XP_011541872.1:n.*378_*381del
XM_024446164.1:c.*378_*381del	XP_024301932.1:n.*378_*381del
NM_022464.5:c.*378_*381del MANE Select	NP_071909.1:n.*378_*381del
NM_001037633.2:c.*378_*381del	NP_001032722.1:n.*378_*381del