Canonical Allele Identifier: CA2573055009

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 1065835
• ClinVar RCV Id: RCV001775029
• dbSNP Id: rs2145776991

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983410_37983420del , CM000684.2:g.37983410_37983420del	GRCh38
NC_000022.10:g.38379417_38379427del , CM000684.1:g.38379417_38379427del	GRCh37
NC_000022.9:g.36709363_36709373del	NCBI36
NG_007948.1:g.6114_6124del , LRG_271:g.6114_6124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.582_592del (SOX10)	ENSP00000513596.1:p.Ala195ProfsTer7
ENST00000690831.1:c.366_376del (SOX10)	ENSP00000510381.1:p.Ala123ProfsTer7
ENST00000396884.8:c.366_376del (SOX10) MANE Select	ENSP00000380093.2:p.Ala123ProfsTer7
ENST00000652356.1:n.655_665del (SOX10)
ENST00000360880.6:c.366_376del (SOX10)	ENSP00000354130.2:p.Ala123ProfsTer7
ENST00000396884.6:c.366_376del (SOX10)	ENSP00000380093.2:p.Ala123ProfsTer7
ENST00000405557.5:c.293+16240_293+16250del (POLR2F)	ENSP00000384112.1:n.293+16240_293+16250del
ENST00000407936.5:c.294-2744_294-2734del (POLR2F)	ENSP00000385725.1:n.294-2744_294-2734del
ENST00000427770.1:c.366_376del (SOX10)	ENSP00000414853.1:p.Ala123ProfsTer7
ENST00000443002.5:c.*39-1642_*39-1632del (POLR2F)	ENSP00000406826.1:n.*39-1642_*39-1632del
ENST00000470555.1:n.70+920_70+930del (SOX10)
NM_001301130.1:c.294-2744_294-2734del (POLR2F)	NP_001288059.1:n.294-2744_294-2734del
NM_001301131.1:c.293+16240_293+16250del (POLR2F)	NP_001288060.1:n.293+16240_293+16250del
NM_006941.3:c.366_376del , LRG_271t1:c.366_376del (SOX10)	NP_008872.1:p.Ala123ProfsTer7
XR_938243.1:n.158+11100_158+11110del
NM_001363825.1:c.*38+11100_*38+11110del (POLR2F)	NP_001350754.1:n.*38+11100_*38+11110del
NM_001301130.2:c.294-2744_294-2734del (POLR2F)	NP_001288059.1:n.294-2744_294-2734del
NM_001301131.2:c.293+16240_293+16250del (POLR2F)	NP_001288060.1:n.293+16240_293+16250del
NM_006941.4:c.366_376del (SOX10) MANE Select	NP_008872.1:p.Ala123ProfsTer7