Canonical Allele Identifier: CA658799549

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 488044
• ClinVar RCV Id: RCV000626403
• dbSNP Id: rs1555939564
• MyVariant Identifiers: chr22:g.38379730_38379748del (hg19) ; chr22:g.37983723_37983741del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983731_37983749del , CM000684.2:g.37983731_37983749del	GRCh38
NC_000022.10:g.38379738_38379756del , CM000684.1:g.38379738_38379756del	GRCh37
NC_000022.9:g.36709684_36709702del	NCBI36
NG_007948.1:g.5792_5810del , LRG_271:g.5792_5810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.260_278del (SOX10)	ENSP00000513596.1:p.Val87AlafsTer11
ENST00000690831.1:c.44_62del (SOX10)	ENSP00000510381.1:p.Val15AlafsTer11
ENST00000396884.8:c.44_62del (SOX10) MANE Select	ENSP00000380093.2:p.Val15AlafsTer11
ENST00000652356.1:n.333_351del (SOX10)
ENST00000360880.6:c.44_62del (SOX10)	ENSP00000354130.2:p.Val15AlafsTer11
ENST00000396884.6:c.44_62del (SOX10)	ENSP00000380093.2:p.Val15AlafsTer11
ENST00000405557.5:c.293+16561_293+16579del (POLR2F)	ENSP00000384112.1:n.293+16561_293+16579de...
ENST00000407936.5:c.294-2423_294-2405del (POLR2F)	ENSP00000385725.1:n.294-2423_294-2405del
ENST00000427770.1:c.44_62del (SOX10)	ENSP00000414853.1:p.Val15AlafsTer11
ENST00000443002.5:c.*39-1321_*39-1303del (POLR2F)	ENSP00000406826.1:n.*39-1321_*39-1303del
ENST00000470555.1:n.70+598_70+616del (SOX10)
NM_001301130.1:c.294-2423_294-2405del (POLR2F)	NP_001288059.1:n.294-2423_294-2405del
NM_001301131.1:c.293+16561_293+16579del (POLR2F)	NP_001288060.1:n.293+16561_293+16579del
NM_006941.3:c.44_62del , LRG_271t1:c.44_62del (SOX10)	NP_008872.1:p.Val15AlafsTer11
XR_938243.1:n.158+11421_158+11439del
NM_001363825.1:c.*38+11421_*38+11439del (POLR2F)	NP_001350754.1:n.*38+11421_*38+11439del
NM_001301130.2:c.294-2423_294-2405del (POLR2F)	NP_001288059.1:n.294-2423_294-2405del
NM_001301131.2:c.293+16561_293+16579del (POLR2F)	NP_001288060.1:n.293+16561_293+16579del
NM_006941.4:c.44_62del (SOX10) MANE Select	NP_008872.1:p.Val15AlafsTer11