Canonical Allele Identifier: CA658799422

Gene: SON

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33554005_33554008del , CM000683.2:g.33554005_33554008del	GRCh38
NC_000021.8:g.34926311_34926314del , CM000683.1:g.34926311_34926314del	GRCh37
NC_000021.7:g.33848181_33848184del	NCBI36
NG_052981.1:g.15968_15971del

Transcript Alleles

HGVS	Amino-acid Change
NM_138927.4:c.4774_4777del MANE Select	NP_620305.3:p.Thr1592TyrfsTer30
ENST00000356577.10:c.4774_4777del MANE Select	ENSP00000348984.4:p.Thr1592TyrfsTer30
NM_001291411.1:c.4774_4777del	NP_001278340.1:p.Thr1592TyrfsTer30
NM_001291411.2:c.4774_4777del	NP_001278340.2:p.Thr1592TyrfsTer30
NM_001291412.1:c.245-3151_245-3148del	NP_001278341.1:n.245-3151_245-3148del
NM_001291412.2:c.245-3151_245-3148del	NP_001278341.1:n.245-3151_245-3148del
NM_001291412.3:c.245-3151_245-3148del	NP_001278341.1:n.245-3151_245-3148del
NM_032195.2:c.4774_4777del	NP_115571.2:p.Thr1592TyrfsTer30
NM_032195.3:c.4774_4777del	NP_115571.3:p.Thr1592TyrfsTer30
NM_138927.2:c.4774_4777del	NP_620305.2:p.Thr1592TyrfsTer30
NM_138927.3:c.4774_4777del	NP_620305.2:p.Thr1592TyrfsTer30
NR_103797.1:n.4829_4832del
NR_103797.2:n.4829_4832del
ENST00000300278.8:c.4774_4777del	ENSP00000300278.2:p.Thr1592TyrfsTer30
ENST00000356577.8:c.4774_4777del	ENSP00000348984.4:p.Thr1592TyrfsTer30
ENST00000381679.8:c.4774_4777del	ENSP00000371095.4:p.Thr1592TyrfsTer30
ENST00000381692.6:c.245-3151_245-3148del	ENSP00000371111.2:n.245-3151_245-3148del
ENST00000436227.5:c.1758_1761del
ENST00000455528.5:c.4774_4777del	ENSP00000399783.1:p.Thr1592TyrfsTer30
ENST00000695559.1:c.245-3151_245-3148del	ENSP00000512016.1:n.245-3151_245-3148del
ENST00000704334.1:c.245-3151_245-3148del	ENSP00000515848.1:n.245-3151_245-3148del