Canonical Allele Identifier: CA2688091531

Gene: SPAG1

Linked Data

• gnomAD v4: 8-100191463-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100191464del , CM000670.2:g.100191464del	GRCh38
NC_000008.10:g.101203692del , CM000670.1:g.101203692del	GRCh37
NC_000008.9:g.101272868del	NCBI36
NG_033834.1:g.38430del
NG_033834.2:g.38430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388798.7:c.907del MANE Select	ENSP00000373450.3:p.Leu303Ter
ENST00000251809.4:c.907del	ENSP00000251809.3:p.Leu303Ter
ENST00000388798.6:c.907del	ENSP00000373450.2:p.Leu303Ter
ENST00000520508.5:c.907del	ENSP00000428070.1:p.Leu303Ter
ENST00000520643.5:c.907del	ENSP00000427716.1:p.Leu303Ter
NM_003114.4:c.907del	NP_003105.2:p.Leu303Ter
NM_172218.2:c.907del	NP_757367.1:p.Leu303Ter
XM_011517240.1:c.907del	XP_011515542.1:p.Leu303Ter
XM_011517241.1:c.907del	XP_011515543.1:p.Leu303Ter
XM_011517242.1:c.907del	XP_011515544.1:p.Leu303Ter
XM_011517243.1:c.907del	XP_011515545.1:p.Leu303Ter
XM_011517244.1:c.907del	XP_011515546.1:p.Leu303Ter
XM_011517245.1:c.907del	XP_011515547.1:p.Leu303Ter
XM_011517240.2:c.907del	XP_011515542.1:p.Leu303Ter
XM_011517241.2:c.907del	XP_011515543.1:p.Leu303Ter
XM_011517242.2:c.907del	XP_011515544.1:p.Leu303Ter
XM_011517243.2:c.907del	XP_011515545.1:p.Leu303Ter
XM_011517245.2:c.907del	XP_011515547.1:p.Leu303Ter
XM_017013754.1:c.1012del	XP_016869243.1:p.Leu338Ter
XM_017013755.1:c.571del	XP_016869244.1:p.Leu191Ter
XR_001745580.1:n.993del
XR_001745581.1:n.993del
XR_001745582.1:n.993del
XR_001745583.1:n.993del
NM_001374321.1:c.907del	NP_001361250.1:p.Leu303Ter
NM_003114.5:c.907del MANE Select	NP_003105.2:p.Leu303Ter
NM_172218.3:c.907del	NP_757367.1:p.Leu303Ter