Canonical Allele Identifier: CA2668425524

Gene: SI

Linked Data

• gnomAD v4: 3-165068995-TTGATTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165068997_165069002del , CM000665.2:g.165068997_165069002del	GRCh38
NC_000003.11:g.164786785_164786790del , CM000665.1:g.164786785_164786790del	GRCh37
NC_000003.10:g.166269479_166269484del	NCBI36
NG_017043.1:g.14495_14500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.373+77_373+82del MANE Select	ENSP00000264382.3:n.373+77_373+82del
ENST00000264382.7:c.373+77_373+82del	ENSP00000264382.3:n.373+77_373+82del
ENST00000476593.1:c.*248+77_*248+82del	ENSP00000419450.1:n.*248+77_*248+82del
NM_001041.3:c.373+77_373+82del	NP_001032.2:n.373+77_373+82del
XM_011513078.1:c.274+77_274+82del	XP_011511380.1:n.274+77_274+82del
XM_011513078.2:c.274+77_274+82del	XP_011511380.1:n.274+77_274+82del
NM_001041.4:c.373+77_373+82del MANE Select	NP_001032.2:n.373+77_373+82del