Canonical Allele Identifier: CA1054247124

Gene: SPSB4

Linked Data

• gnomAD v3: 3-141080407-T-TAGAG
• gnomAD v4: 3-141080407-T-TAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080407_141080408insAGAG , CM000665.2:g.141080407_141080408insAGAG	GRCh38
NC_000003.11:g.140799249_140799250insAGAG , CM000665.1:g.140799249_140799250insAGAG	GRCh37
NC_000003.10:g.142281939_142281940insAGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310546.3:c.694+13609_694+13610insAGAG MANE Select	ENSP00000311609.2:n.694+13609_694+13610insAGAG
ENST00000310546.2:c.694+13609_694+13610insAGAG	ENSP00000311609.2:n.694+13609_694+13610insAGAG
ENST00000507895.1:n.256_257insAGAG
ENST00000508126.1:c.161+13609_161+13610insAGAG
NM_080862.2:c.694+13609_694+13610insAGAG	NP_543138.1:n.694+13609_694+13610insAGAG
XM_011513313.1:c.694+13609_694+13610insAGAG	XP_011511615.1:n.694+13609_694+13610insAGAG
XR_924215.1:n.1546_1547insAGAG
XR_924216.1:n.1546_1547insAGAG
XM_017007509.2:c.*110_*111insAGAG	XP_016862998.1:n.*110_*111insAGAG
XR_924215.3:n.1027_1028insAGAG
XR_924216.3:n.1027_1028insAGAG
NM_080862.3:c.694+13609_694+13610insAGAG MANE Select	NP_543138.1:n.694+13609_694+13610insAGAG