Canonical Allele Identifier: CA1417304040

Gene: SI

Linked Data

• dbSNP Id: rs1371395524
• gnomAD v4: 3-164996829-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164996835dup , CM000665.2:g.164996835dup	GRCh38
NC_000003.11:g.164714623dup , CM000665.1:g.164714623dup	GRCh37
NC_000003.10:g.166197317dup	NCBI36
NG_017043.1:g.86666dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.4541-58dup MANE Select	ENSP00000264382.3:n.4541-58dup
ENST00000264382.7:c.4541-58dup	ENSP00000264382.3:n.4541-58dup
NM_001041.3:c.4541-58dup	NP_001032.2:n.4541-58dup
XM_011513078.1:c.4442-58dup	XP_011511380.1:n.4442-58dup
XM_011513078.2:c.4442-58dup	XP_011511380.1:n.4442-58dup
NM_001041.4:c.4541-58dup MANE Select	NP_001032.2:n.4541-58dup