Canonical Allele Identifier: CA1139667112

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 872923
• ClinVar RCV Id: RCV001093609
• dbSNP Id: rs1932469753

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983577_37983578del , CM000684.2:g.37983577_37983578del	GRCh38
NC_000022.10:g.38379584_38379585del , CM000684.1:g.38379584_38379585del	GRCh37
NC_000022.9:g.36709530_36709531del	NCBI36
NG_007948.1:g.5955_5956del , LRG_271:g.5955_5956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.423_424del (SOX10)	ENSP00000513596.1:p.Cys143HisfsTer?
ENST00000690831.1:c.207_208del (SOX10)	ENSP00000510381.1:p.Cys71HisfsTer?
ENST00000396884.8:c.207_208del (SOX10) MANE Select	ENSP00000380093.2:p.Cys71HisfsTer?
ENST00000652356.1:n.496_497del (SOX10)
ENST00000360880.6:c.207_208del (SOX10)	ENSP00000354130.2:p.Cys71HisfsTer?
ENST00000396884.6:c.207_208del (SOX10)	ENSP00000380093.2:p.Cys71HisfsTer?
ENST00000405557.5:c.293+16407_293+16408del (POLR2F)	ENSP00000384112.1:n.293+16407_293+16408del
ENST00000407936.5:c.294-2577_294-2576del (POLR2F)	ENSP00000385725.1:n.294-2577_294-2576del
ENST00000427770.1:c.207_208del (SOX10)	ENSP00000414853.1:p.Cys71HisfsTer?
ENST00000443002.5:c.*39-1475_*39-1474del (POLR2F)	ENSP00000406826.1:n.*39-1475_*39-1474del
ENST00000470555.1:n.70+761_70+762del (SOX10)
NM_001301130.1:c.294-2577_294-2576del (POLR2F)	NP_001288059.1:n.294-2577_294-2576del
NM_001301131.1:c.293+16407_293+16408del (POLR2F)	NP_001288060.1:n.293+16407_293+16408del
NM_006941.3:c.207_208del , LRG_271t1:c.207_208del (SOX10)	NP_008872.1:p.Cys71HisfsTer?
XR_938243.1:n.158+11267_158+11268del
NM_001363825.1:c.*38+11267_*38+11268del (POLR2F)	NP_001350754.1:n.*38+11267_*38+11268del
NM_001301130.2:c.294-2577_294-2576del (POLR2F)	NP_001288059.1:n.294-2577_294-2576del
NM_001301131.2:c.293+16407_293+16408del (POLR2F)	NP_001288060.1:n.293+16407_293+16408del
NM_006941.4:c.207_208del (SOX10) MANE Select	NP_008872.1:p.Cys71HisfsTer?