Canonical Allele Identifier: CA2675501338

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946754-TGACAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946755_138946759del , CM000667.2:g.138946755_138946759del	GRCh38
NC_000005.9:g.138282444_138282448del , CM000667.1:g.138282444_138282448del	GRCh37
NC_000005.8:g.138310343_138310347del	NCBI36
NG_008112.1:g.256618_256622del
NG_008112.2:g.256618_256622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*358_*362del MANE Select	ENSP00000378294.2:n.*358_*362del
ENST00000265195.9:c.*358_*362del	ENSP00000265195.5:n.*358_*362del
ENST00000394817.6:c.*358_*362del	ENSP00000378294.2:n.*358_*362del
NM_001037633.1:c.*358_*362del	NP_001032722.1:n.*358_*362del
NM_022464.4:c.*358_*362del	NP_071909.1:n.*358_*362del
XM_011543570.2:c.*358_*362del	XP_011541872.1:n.*358_*362del
XM_024446164.1:c.*358_*362del	XP_024301932.1:n.*358_*362del
NM_022464.5:c.*358_*362del MANE Select	NP_071909.1:n.*358_*362del
NM_001037633.2:c.*358_*362del	NP_001032722.1:n.*358_*362del