Canonical Allele Identifier: CA2667974497

Gene: SPSB4

Linked Data

• gnomAD v4: 3-141080287-CAGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080289_141080292del , CM000665.2:g.141080289_141080292del	GRCh38
NC_000003.11:g.140799131_140799134del , CM000665.1:g.140799131_140799134del	GRCh37
NC_000003.10:g.142281821_142281824del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310546.3:c.694+13491_694+13494del MANE Select	ENSP00000311609.2:n.694+13491_694+13494de...
ENST00000310546.2:c.694+13491_694+13494del	ENSP00000311609.2:n.694+13491_694+13494de...
ENST00000507895.1:n.139-1_141del
ENST00000508126.1:c.161+13491_161+13494del
ENST00000508828.1:n.454-1_456del
NM_080862.2:c.694+13491_694+13494del	NP_543138.1:n.694+13491_694+13494del
XM_011513313.1:c.694+13491_694+13494del	XP_011511615.1:n.694+13491_694+13494del
XR_924215.1:n.1429-1_1431del
XR_924216.1:n.1429-1_1431del
XM_017007509.2:c.695-1_697del
XR_924215.3:n.910-1_912del
XR_924216.3:n.910-1_912del
NM_080862.3:c.694+13491_694+13494del MANE Select	NP_543138.1:n.694+13491_694+13494del