Canonical Allele Identifier: CA2404606300

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983581_37983582delinsGA , CM000684.2:g.37983581_37983582delinsGA	GRCh38
NC_000022.10:g.38379588_38379589delinsGA , CM000684.1:g.38379588_38379589delinsGA	GRCh37
NC_000022.9:g.36709534_36709535delinsGA	NCBI36
NG_007948.1:g.5951_5952delinsTC , LRG_271:g.5951_5952delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.419_420delinsTC (SOX10)	ENSP00000513596.1:p.Phe140=
ENST00000690831.1:c.203_204delinsTC (SOX10)	ENSP00000510381.1:p.Phe68=
ENST00000396884.8:c.203_204delinsTC (SOX10) MANE Select	ENSP00000380093.2:p.Phe68=
ENST00000652356.1:n.492_493delinsTC (SOX10)
ENST00000360880.6:c.203_204delinsTC (SOX10)	ENSP00000354130.2:p.Phe68=
ENST00000396884.6:c.203_204delinsTC (SOX10)	ENSP00000380093.2:p.Phe68=
ENST00000405557.5:c.293+16411_293+16412delinsGA (POLR2F)	ENSP00000384112.1:n.293+16411_293+16412delinsGA
ENST00000407936.5:c.294-2573_294-2572delinsGA (POLR2F)	ENSP00000385725.1:n.294-2573_294-2572delinsGA
ENST00000427770.1:c.203_204delinsTC (SOX10)	ENSP00000414853.1:p.Phe68=
ENST00000443002.5:c.*39-1471_*39-1470delinsGA (POLR2F)	ENSP00000406826.1:n.*39-1471_*39-1470delinsGA
ENST00000470555.1:n.70+757_70+758delinsTC (SOX10)
NM_001301130.1:c.294-2573_294-2572delinsGA (POLR2F)	NP_001288059.1:n.294-2573_294-2572delinsGA
NM_001301131.1:c.293+16411_293+16412delinsGA (POLR2F)	NP_001288060.1:n.293+16411_293+16412delinsGA
NM_006941.3:c.203_204delinsTC , LRG_271t1:c.203_204delinsTC (SOX10)	NP_008872.1:p.Phe68=
XR_938243.1:n.158+11271_158+11272delinsGA
NM_001363825.1:c.*38+11271_*38+11272delinsGA (POLR2F)	NP_001350754.1:n.*38+11271_*38+11272delinsGA
NM_001301130.2:c.294-2573_294-2572delinsGA (POLR2F)	NP_001288059.1:n.294-2573_294-2572delinsGA
NM_001301131.2:c.293+16411_293+16412delinsGA (POLR2F)	NP_001288060.1:n.293+16411_293+16412delinsGA
NM_006941.4:c.203_204delinsTC (SOX10) MANE Select	NP_008872.1:p.Phe68=