Canonical Allele Identifier: CA2656620722

Gene: SOX10 POLR2F

Linked Data

• gnomAD v4: 22-37973058-TGGCATAGGTGGCATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973064_37973078del , CM000684.2:g.37973064_37973078del	GRCh38
NC_000022.10:g.38369071_38369085del , CM000684.1:g.38369071_38369085del	GRCh37
NC_000022.9:g.36699017_36699031del	NCBI36
NG_007948.1:g.16460_16474del , LRG_271:g.16460_16474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*422_*436del (SOX10)	ENSP00000513596.1:n.*422_*436del
ENST00000690831.1:c.*1445_*1459del (SOX10)	ENSP00000510381.1:n.*1445_*1459del
ENST00000396884.8:c.*422_*436del (SOX10) MANE Select	ENSP00000380093.2:n.*422_*436del
ENST00000651746.1:c.166-2069_166-2055del (SOX10)
ENST00000360880.6:c.*422_*436del (SOX10)	ENSP00000354130.2:n.*422_*436del
ENST00000396884.6:c.*422_*436del (SOX10)	ENSP00000380093.2:n.*422_*436del
ENST00000405557.5:c.293+5894_293+5908del (POLR2F)	ENSP00000384112.1:n.293+5894_293+5908del
ENST00000407936.5:c.293+5894_293+5908del (POLR2F)	ENSP00000385725.1:n.293+5894_293+5908del
ENST00000443002.5:c.*38+754_*38+768del (POLR2F)	ENSP00000406826.1:n.*38+754_*38+768del
ENST00000446929.5:c.482+971_482+985del (SOX10)
NM_001301130.1:c.293+5894_293+5908del (POLR2F)	NP_001288059.1:n.293+5894_293+5908del
NM_001301131.1:c.293+5894_293+5908del (POLR2F)	NP_001288060.1:n.293+5894_293+5908del
NM_006941.3:c.*422_*436del , LRG_271t1:c.*422_*436del (SOX10)	NP_008872.1:n.*422_*436del
XR_938243.1:n.158+754_158+768del
NM_001363825.1:c.*38+754_*38+768del (POLR2F)	NP_001350754.1:n.*38+754_*38+768del
NM_001301130.2:c.293+5894_293+5908del (POLR2F)	NP_001288059.1:n.293+5894_293+5908del
NM_001301131.2:c.293+5894_293+5908del (POLR2F)	NP_001288060.1:n.293+5894_293+5908del
NM_006941.4:c.*422_*436del (SOX10) MANE Select	NP_008872.1:n.*422_*436del