Canonical Allele Identifier: CA1025597608

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1932105933
• gnomAD v3: 22-37973025-ACAGTCT-A
• gnomAD v4: 22-37973025-ACAGTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973027_37973032del , CM000684.2:g.37973027_37973032del	GRCh38
NC_000022.10:g.38369034_38369039del , CM000684.1:g.38369034_38369039del	GRCh37
NC_000022.9:g.36698980_36698985del	NCBI36
NG_007948.1:g.16502_16507del , LRG_271:g.16502_16507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*464_*469del (SOX10)	ENSP00000513596.1:n.*464_*469del
ENST00000690831.1:c.*1487_*1492del (SOX10)	ENSP00000510381.1:n.*1487_*1492del
ENST00000396884.8:c.*464_*469del (SOX10) MANE Select	ENSP00000380093.2:n.*464_*469del
ENST00000651746.1:c.166-2027_166-2022del (SOX10)
ENST00000360880.6:c.*464_*469del (SOX10)	ENSP00000354130.2:n.*464_*469del
ENST00000396884.6:c.*464_*469del (SOX10)	ENSP00000380093.2:n.*464_*469del
ENST00000405557.5:c.293+5857_293+5862del (POLR2F)	ENSP00000384112.1:n.293+5857_293+5862del
ENST00000407936.5:c.293+5857_293+5862del (POLR2F)	ENSP00000385725.1:n.293+5857_293+5862del
ENST00000443002.5:c.*38+717_*38+722del (POLR2F)	ENSP00000406826.1:n.*38+717_*38+722del
ENST00000446929.5:c.482+1013_482+1018del (SOX10)
NM_001301130.1:c.293+5857_293+5862del (POLR2F)	NP_001288059.1:n.293+5857_293+5862del
NM_001301131.1:c.293+5857_293+5862del (POLR2F)	NP_001288060.1:n.293+5857_293+5862del
NM_006941.3:c.*464_*469del , LRG_271t1:c.*464_*469del (SOX10)	NP_008872.1:n.*464_*469del
XR_938243.1:n.158+717_158+722del
NM_001363825.1:c.*38+717_*38+722del (POLR2F)	NP_001350754.1:n.*38+717_*38+722del
NM_001301130.2:c.293+5857_293+5862del (POLR2F)	NP_001288059.1:n.293+5857_293+5862del
NM_001301131.2:c.293+5857_293+5862del (POLR2F)	NP_001288060.1:n.293+5857_293+5862del
NM_006941.4:c.*464_*469del (SOX10) MANE Select	NP_008872.1:n.*464_*469del