Canonical Allele Identifier: CA2667974457

Gene: SPSB4

Linked Data

• gnomAD v4: 3-141080227-CCATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080228_141080231del , CM000665.2:g.141080228_141080231del	GRCh38
NC_000003.11:g.140799070_140799073del , CM000665.1:g.140799070_140799073del	GRCh37
NC_000003.10:g.142281760_142281763del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310546.3:c.694+13430_694+13433del MANE Select	ENSP00000311609.2:n.694+13430_694+13433del
ENST00000310546.2:c.694+13430_694+13433del	ENSP00000311609.2:n.694+13430_694+13433del
ENST00000507895.1:n.139-62_139-59del
ENST00000508126.1:c.161+13430_161+13433del
ENST00000508828.1:n.454-62_454-59del
NM_080862.2:c.694+13430_694+13433del	NP_543138.1:n.694+13430_694+13433del
XM_011513313.1:c.694+13430_694+13433del	XP_011511615.1:n.694+13430_694+13433del
XR_924215.1:n.1429-62_1429-59del
XR_924216.1:n.1429-62_1429-59del
XM_017007509.2:c.695-62_695-59del	XP_016862998.1:n.695-62_695-59del
XR_924215.3:n.910-62_910-59del
XR_924216.3:n.910-62_910-59del
NM_080862.3:c.694+13430_694+13433del MANE Select	NP_543138.1:n.694+13430_694+13433del