Canonical Allele Identifier: CA6949596

Gene: SPART

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36335142del , CM000675.2:g.36335142del	GRCh38
NC_000013.10:g.36909279del , CM000675.1:g.36909279del	GRCh37
NC_000013.9:g.35807279del	NCBI36
NG_011559.1:g.40046del
NG_011559.2:g.40046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438666.7:c.696del MANE Select	ENSP00000406061.2:p.Phe232LeufsTer2
ENST00000650221.1:c.696del	ENSP00000497209.1:p.Phe232LeufsTer2
ENST00000355182.8:c.696del	ENSP00000347314.4:p.Phe232LeufsTer2
ENST00000438666.6:c.696del	ENSP00000406061.2:p.Phe232LeufsTer2
ENST00000451493.5:c.696del	ENSP00000414147.1:p.Phe232LeufsTer2
ENST00000494062.2:c.696del	ENSP00000473599.1:p.Phe232LeufsTer2
ENST00000495510.1:n.757del
NM_001142294.1:c.696del	NP_001135766.1:p.Phe232LeufsTer2
NM_001142295.1:c.696del	NP_001135767.1:p.Phe232LeufsTer2
NM_001142296.1:c.696del	NP_001135768.1:p.Phe232LeufsTer2
NM_015087.4:c.696del	NP_055902.1:p.Phe232LeufsTer2
XM_005266313.3:c.696del	XP_005266370.1:p.Phe232LeufsTer2
XM_005266314.2:c.696del	XP_005266371.1:p.Phe232LeufsTer2
XM_005266315.2:c.696del	XP_005266372.1:p.Phe232LeufsTer2
XM_005266316.2:c.696del	XP_005266373.1:p.Phe232LeufsTer2
XM_005266317.2:c.696del	XP_005266374.1:p.Phe232LeufsTer2
XM_011535012.1:c.696del	XP_011533314.1:p.Phe232LeufsTer2
XR_941540.1:n.958del
XM_005266313.5:c.696del	XP_005266370.1:p.Phe232LeufsTer2
XM_005266314.3:c.696del	XP_005266371.1:p.Phe232LeufsTer2
XM_005266315.3:c.696del	XP_005266372.1:p.Phe232LeufsTer2
XM_005266317.3:c.696del	XP_005266374.1:p.Phe232LeufsTer2
XM_011535012.2:c.696del	XP_011533314.1:p.Phe232LeufsTer2
XM_024449334.1:c.696del	XP_024305102.1:p.Phe232LeufsTer2
XR_001749523.2:n.924del
NM_015087.5:c.696del MANE Select	NP_055902.1:p.Phe232LeufsTer2
NM_001142296.2:c.696del	NP_001135768.1:p.Phe232LeufsTer2
NM_001142294.2:c.696del	NP_001135766.1:p.Phe232LeufsTer2
NM_001142295.2:c.696del	NP_001135767.1:p.Phe232LeufsTer2