Canonical Allele Identifier: CA2668425525

Gene: SI

Linked Data

• gnomAD v4: 3-165069000-TCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069001_165069003del , CM000665.2:g.165069001_165069003del	GRCh38
NC_000003.11:g.164786789_164786791del , CM000665.1:g.164786789_164786791del	GRCh37
NC_000003.10:g.166269483_166269485del	NCBI36
NG_017043.1:g.14493_14495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.373+75_373+77del MANE Select	ENSP00000264382.3:n.373+75_373+77del
ENST00000264382.7:c.373+75_373+77del	ENSP00000264382.3:n.373+75_373+77del
ENST00000476593.1:c.*248+75_*248+77del	ENSP00000419450.1:n.*248+75_*248+77del
NM_001041.3:c.373+75_373+77del	NP_001032.2:n.373+75_373+77del
XM_011513078.1:c.274+75_274+77del	XP_011511380.1:n.274+75_274+77del
XM_011513078.2:c.274+75_274+77del	XP_011511380.1:n.274+75_274+77del
NM_001041.4:c.373+75_373+77del MANE Select	NP_001032.2:n.373+75_373+77del