Canonical Allele Identifier: CA2668418786

Gene: SI

Linked Data

• gnomAD v4: 3-164996795-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164996797del , CM000665.2:g.164996797del	GRCh38
NC_000003.11:g.164714585del , CM000665.1:g.164714585del	GRCh37
NC_000003.10:g.166197279del	NCBI36
NG_017043.1:g.86700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.4541-24del MANE Select	ENSP00000264382.3:n.4541-24del
ENST00000264382.7:c.4541-24del	ENSP00000264382.3:n.4541-24del
NM_001041.3:c.4541-24del	NP_001032.2:n.4541-24del
XM_011513078.1:c.4442-24del	XP_011511380.1:n.4442-24del
XM_011513078.2:c.4442-24del	XP_011511380.1:n.4442-24del
NM_001041.4:c.4541-24del MANE Select	NP_001032.2:n.4541-24del