Canonical Allele Identifier: CA10586131

Gene: SON

Linked Data

• ClinVar Variation Id: 252927
• ClinVar RCV Id: RCV000256192 ; RCV000491797
• dbSNP Id: rs886039778
• MyVariant Identifiers: chr21:g.34924610dupA (hg19) ; chr21:g.33552304dupA (hg38)
• PubMed: PMID:27545676

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33552304dup , CM000683.2:g.33552304dup	GRCh38
NC_000021.8:g.34924610dup , CM000683.1:g.34924610dup	GRCh37
NC_000021.7:g.33846480dup	NCBI36
NG_052981.1:g.14267dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000695559.1:c.245-4852dup	ENSP00000512016.1:n.245-4852dup
ENST00000704334.1:c.245-4852dup	ENSP00000515848.1:n.245-4852dup
ENST00000356577.10:c.3073dup MANE Select	ENSP00000348984.4:p.Met1025AsnfsTer6
ENST00000300278.8:c.3073dup	ENSP00000300278.2:p.Met1025AsnfsTer6
ENST00000356577.8:c.3073dup	ENSP00000348984.4:p.Met1025AsnfsTer6
ENST00000381679.8:c.3073dup	ENSP00000371095.4:p.Met1025AsnfsTer6
ENST00000381692.6:c.245-4852dup	ENSP00000371111.2:n.245-4852dup
ENST00000436227.5:c.57dup
ENST00000455528.5:c.3073dup	ENSP00000399783.1:p.Met1025AsnfsTer6
NM_001291411.1:c.3073dup	NP_001278340.1:p.Met1025AsnfsTer6
NM_001291412.1:c.245-4852dup	NP_001278341.1:n.245-4852dup
NM_032195.2:c.3073dup	NP_115571.2:p.Met1025AsnfsTer6
NM_138927.2:c.3073dup	NP_620305.2:p.Met1025AsnfsTer6
NR_103797.1:n.3128dup
NM_138927.3:c.3073dup	NP_620305.2:p.Met1025AsnfsTer6
NM_001291412.2:c.245-4852dup	NP_001278341.1:n.245-4852dup
NM_001291411.2:c.3073dup	NP_001278340.2:p.Met1025AsnfsTer6
NM_001291412.3:c.245-4852dup	NP_001278341.1:n.245-4852dup
NM_032195.3:c.3073dup	NP_115571.3:p.Met1025AsnfsTer6
NM_138927.4:c.3073dup MANE Select	NP_620305.3:p.Met1025AsnfsTer6
NR_103797.2:n.3128dup