Canonical Allele Identifier: CA2675501316

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946745-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946746_138946747del , CM000667.2:g.138946746_138946747del	GRCh38
NC_000005.9:g.138282435_138282436del , CM000667.1:g.138282435_138282436del	GRCh37
NC_000005.8:g.138310334_138310335del	NCBI36
NG_008112.1:g.256630_256631del
NG_008112.2:g.256630_256631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*370_*371del MANE Select	ENSP00000378294.2:n.*370_*371del
ENST00000394817.6:c.*370_*371del	ENSP00000378294.2:n.*370_*371del
NM_001037633.1:c.*370_*371del	NP_001032722.1:n.*370_*371del
NM_022464.4:c.*370_*371del	NP_071909.1:n.*370_*371del
XM_011543570.2:c.*370_*371del	XP_011541872.1:n.*370_*371del
XM_024446164.1:c.*370_*371del	XP_024301932.1:n.*370_*371del
NM_022464.5:c.*370_*371del MANE Select	NP_071909.1:n.*370_*371del
NM_001037633.2:c.*370_*371del	NP_001032722.1:n.*370_*371del