Canonical Allele Identifier: CA118777

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 7406
• ClinVar RCV Id: RCV000007831
• MyVariant Identifiers: chr22:g.38373478_38375254del (hg19) ; chr22:g.37977471_37979247del (hg38)
• PubMed: PMID:17999358

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977477_37979253del , CM000684.2:g.37977477_37979253del	GRCh38
NC_000022.10:g.38373484_38375260del , CM000684.1:g.38373484_38375260del	GRCh37
NC_000022.9:g.36703430_36705206del	NCBI36
NG_007948.1:g.10286_12062del , LRG_271:g.10286_12062del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.645-1112_913+396del (SOX10)
ENST00000690831.1:c.429-595_*319+396del (SOX10)
ENST00000396884.8:c.429-1112_697+396del (SOX10)
ENST00000360880.6:c.429-1112_697+396del (SOX10)
ENST00000396884.6:c.429-1112_697+396del (SOX10)
ENST00000405557.5:c.293+10307_293+12083del (POLR2F)	ENSP00000384112.1:n.293+10307_293+12083de...
ENST00000407936.5:c.294-8677_294-6901del (POLR2F)	ENSP00000385725.1:n.294-8677_294-6901del
ENST00000443002.5:c.*38+5167_*39-5799del (POLR2F)	ENSP00000406826.1:n.*38+5167_*39-5799del
ENST00000446929.5:c.59-1112_327+396del (SOX10)
NM_001301130.1:c.294-8677_294-6901del (POLR2F)	NP_001288059.1:n.294-8677_294-6901del
NM_001301131.1:c.293+10307_293+12083del (POLR2F)	NP_001288060.1:n.293+10307_293+12083del
NM_006941.3:c.429-1112_697+396del , LRG_271t1:c.429-1112_697+396del (SOX10)
XR_938243.1:n.158+5167_158+6943del
NM_001363825.1:c.*38+5167_*38+6943del (POLR2F)	NP_001350754.1:n.*38+5167_*38+6943del
NM_001301130.2:c.294-8677_294-6901del (POLR2F)	NP_001288059.1:n.294-8677_294-6901del
NM_001301131.2:c.293+10307_293+12083del (POLR2F)	NP_001288060.1:n.293+10307_293+12083del
NM_006941.4:c.429-1112_697+396del (SOX10)