Canonical Allele Identifier: CA1139657361

Gene: SP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173910182del , CM000664.2:g.173910182del	GRCh38
NC_000002.11:g.174774910del , CM000664.1:g.174774910del	GRCh37
NC_000002.10:g.174483156del	NCBI36
NG_029153.1:g.60521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310015.12:c.2105del MANE Select	ENSP00000310301.6:p.Thr702AsnfsTer26
ENST00000310015.11:c.2105del	ENSP00000310301.6:p.Thr702AsnfsTer26
ENST00000418194.7:c.1901del	ENSP00000406140.3:p.Thr634AsnfsTer26
ENST00000650743.1:c.1826del	ENSP00000498794.1:p.Thr609AsnfsTer16
ENST00000651846.1:c.390+2888del
ENST00000652005.2:c.1943del	ENSP00000498392.2:p.Thr648AsnfsTer26
ENST00000310015.10:c.2105del	ENSP00000310301.6:p.Thr702AsnfsTer26
ENST00000416195.1:c.1975del
ENST00000418194.6:c.1901del	ENSP00000406140.2:p.Thr634AsnfsTer26
ENST00000465379.1:n.3839del
NM_001017371.4:c.1901del	NP_001017371.3:p.Thr634AsnfsTer26
NM_001172712.1:c.2096del	NP_001166183.1:p.Thr699AsnfsTer26
NM_003111.4:c.2105del	NP_003102.1:p.Thr702AsnfsTer26
NM_001017371.5:c.1901del	NP_001017371.3:p.Thr634AsnfsTer26
NM_003111.5:c.2105del MANE Select	NP_003102.1:p.Thr702AsnfsTer26