Canonical Allele Identifier: CA2404601831

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973566_37973581delinsGGCTGGGGTCAGAGAT , CM000684.2:g.37973566_37973581delinsGGCTGGGGTCAGAGAT	GRCh38
NC_000022.10:g.38369573_38369588delinsGGCTGGGGTCAGAGAT , CM000684.1:g.38369573_38369588delinsGGCTGGGGTCAGAGAT	GRCh37
NC_000022.9:g.36699519_36699534delinsGGCTGGGGTCAGAGAT	NCBI36
NG_007948.1:g.15952_15967delinsATCTCTGACCCCAGCC , LRG_271:g.15952_15967delinsATCTCTGACCCCAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1531_1546delinsATCTCTGACCCCAGCC (SOX10)	ENSP00000513596.1:p.Ile511=
ENST00000690831.1:c.*937_*952delinsATCTCTGACCCCAGCC (SOX10)	ENSP00000510381.1:n.*937_*952delinsATCTCTGACCCCAGCC
ENST00000396884.8:c.1315_1330delinsATCTCTGACCCCAGCC (SOX10) MANE Select	ENSP00000380093.2:p.Ile439=
ENST00000651746.1:c.166-2577_166-2562delinsATCTCTGACCCCAGCC (SOX10)
ENST00000360880.6:c.1315_1330delinsATCTCTGACCCCAGCC (SOX10)	ENSP00000354130.2:p.Ile439=
ENST00000396884.6:c.1315_1330delinsATCTCTGACCCCAGCC (SOX10)	ENSP00000380093.2:p.Ile439=
ENST00000405557.5:c.293+6396_293+6411delinsGGCTGGGGTCAGAGAT (POLR2F)	ENSP00000384112.1:n.293+6396_293+6411delinsGGCTGGGGTCAGAGAT
ENST00000407936.5:c.293+6396_293+6411delinsGGCTGGGGTCAGAGAT (POLR2F)	ENSP00000385725.1:n.293+6396_293+6411delinsGGCTGGGGTCAGAGAT
ENST00000443002.5:c.*38+1256_*38+1271delinsGGCTGGGGTCAGAGAT (POLR2F)	ENSP00000406826.1:n.*38+1256_*38+1271delinsGGCTGGGGTCAGAGAT
ENST00000446929.5:c.482+463_482+478delinsATCTCTGACCCCAGCC (SOX10)
NM_001301130.1:c.293+6396_293+6411delinsGGCTGGGGTCAGAGAT (POLR2F)	NP_001288059.1:n.293+6396_293+6411delinsGGCTGGGGTCAGAGAT
NM_001301131.1:c.293+6396_293+6411delinsGGCTGGGGTCAGAGAT (POLR2F)	NP_001288060.1:n.293+6396_293+6411delinsGGCTGGGGTCAGAGAT
NM_006941.3:c.1315_1330delinsATCTCTGACCCCAGCC , LRG_271t1:c.1315_1330delinsATCTCTGACCCCAGCC (SOX10)	NP_008872.1:p.Ile439=
XR_938243.1:n.158+1256_158+1271delinsGGCTGGGGTCAGAGAT
NM_001363825.1:c.*38+1256_*38+1271delinsGGCTGGGGTCAGAGAT (POLR2F)	NP_001350754.1:n.*38+1256_*38+1271delinsGGCTGGGGTCAGAGAT
NM_001301130.2:c.293+6396_293+6411delinsGGCTGGGGTCAGAGAT (POLR2F)	NP_001288059.1:n.293+6396_293+6411delinsGGCTGGGGTCAGAGAT
NM_001301131.2:c.293+6396_293+6411delinsGGCTGGGGTCAGAGAT (POLR2F)	NP_001288060.1:n.293+6396_293+6411delinsGGCTGGGGTCAGAGAT
NM_006941.4:c.1315_1330delinsATCTCTGACCCCAGCC (SOX10) MANE Select	NP_008872.1:p.Ile439=