Canonical Allele Identifier: CA1082073197

Gene: SIL1

Linked Data

• dbSNP Id: rs1766644421
• gnomAD v3: 5-138947052-GCC-G
• gnomAD v4: 5-138947052-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947054_138947055del , CM000667.2:g.138947054_138947055del	GRCh38
NC_000005.9:g.138282743_138282744del , CM000667.1:g.138282743_138282744del	GRCh37
NC_000005.8:g.138310642_138310643del	NCBI36
NG_008112.1:g.256323_256324del
NG_008112.2:g.256323_256324del

Transcript Alleles

HGVS	Amino-acid change
ENST00000394817.7:c.*63_*64del MANE Select	ENSP00000378294.2:n.*63_*64del
ENST00000265195.9:c.*63_*64del	ENSP00000265195.5:n.*63_*64del
ENST00000394817.6:c.*63_*64del	ENSP00000378294.2:n.*63_*64del
ENST00000509534.5:c.*63_*64del	ENSP00000426858.1:n.*63_*64del
ENST00000515008.1:n.784_785del
NM_001037633.1:c.*63_*64del	NP_001032722.1:n.*63_*64del
NM_022464.4:c.*63_*64del	NP_071909.1:n.*63_*64del
XM_011543570.1:c.*63_*64del	XP_011541872.1:n.*63_*64del
XM_011543570.2:c.*63_*64del	XP_011541872.1:n.*63_*64del
XM_024446164.1:c.*63_*64del	XP_024301932.1:n.*63_*64del
NM_022464.5:c.*63_*64del MANE Select	NP_071909.1:n.*63_*64del
NM_001037633.2:c.*63_*64del	NP_001032722.1:n.*63_*64del