Canonical Allele Identifier: CA2667974537

Gene: SPSB4

Linked Data

• gnomAD v4: 3-141080381-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080384del , CM000665.2:g.141080384del	GRCh38
NC_000003.11:g.140799226del , CM000665.1:g.140799226del	GRCh37
NC_000003.10:g.142281916del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310546.3:c.694+13586del MANE Select	ENSP00000311609.2:n.694+13586del
ENST00000310546.2:c.694+13586del	ENSP00000311609.2:n.694+13586del
ENST00000507895.1:n.233del
ENST00000508126.1:c.161+13586del
NM_080862.2:c.694+13586del	NP_543138.1:n.694+13586del
XM_011513313.1:c.694+13586del	XP_011511615.1:n.694+13586del
XR_924215.1:n.1523del
XR_924216.1:n.1523del
XM_017007509.2:c.*87del	XP_016862998.1:n.*87del
XR_924215.3:n.1004del
XR_924216.3:n.1004del
NM_080862.3:c.694+13586del MANE Select	NP_543138.1:n.694+13586del