Canonical Allele Identifier: CA353476

Gene: SMG9

Linked Data

• ClinVar Variation Id: 224497
• ClinVar RCV Id: RCV000210059 ; RCV000210947
• dbSNP Id: rs869312741
• MyVariant Identifiers: chr19:g.44251661_44251662del (hg19) ; chr19:g.43747509_43747510del (hg38)
• PubMed: PMID:27018474

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43747512_43747513del , CM000681.2:g.43747512_43747513del	GRCh38
NC_000019.9:g.44251664_44251665del , CM000681.1:g.44251664_44251665del	GRCh37
NC_000019.8:g.48943504_48943505del	NCBI36
NG_051200.1:g.12527_12528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270066.11:c.520_521del MANE Select	ENSP00000270066.6:p.Pro174ArgfsTer12
ENST00000270066.10:c.520_521del	ENSP00000270066.6:p.Pro174ArgfsTer12
ENST00000595700.5:n.740_741del
ENST00000597598.1:c.132_133del
ENST00000601170.5:c.520_521del	ENSP00000471398.1:p.Pro174ArgfsTer12
ENST00000602222.5:c.520_521del	ENSP00000470451.1:p.Pro174ArgfsTer?
NM_019108.2:c.520_521del	NP_061981.2:p.Pro174ArgfsTer12
XM_005259057.2:c.520_521del	XP_005259114.1:p.Pro174ArgfsTer12
XM_011527113.1:c.520_521del	XP_011525415.1:p.Pro174ArgfsTer12
XM_011527114.1:c.520_521del	XP_011525416.1:p.Pro174ArgfsTer12
XM_011527115.1:c.520_521del	XP_011525417.1:p.Pro174ArgfsTer12
XM_011527116.1:c.520_521del	XP_011525418.1:p.Pro174ArgfsTer12
XM_011527117.1:c.-100_-99del	XP_011525419.1:n.-100_-99del
NM_019108.3:c.520_521del	NP_061981.2:p.Pro174ArgfsTer12
XM_005259057.3:c.520_521del	XP_005259114.1:p.Pro174ArgfsTer12
XM_017026988.1:c.-100_-99del	XP_016882477.1:n.-100_-99del
XM_024451608.1:c.-100_-99del	XP_024307376.1:n.-100_-99del
NM_019108.4:c.520_521del MANE Select	NP_061981.2:p.Pro174ArgfsTer12