Canonical Allele Identifier: CA1025592663

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1932284769
• gnomAD v3: 22-37978220-C-CCA
• gnomAD v4: 22-37978220-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978221_37978222dup , CM000684.2:g.37978221_37978222dup	GRCh38
NC_000022.10:g.38374228_38374229dup , CM000684.1:g.38374228_38374229dup	GRCh37
NC_000022.9:g.36704174_36704175dup	NCBI36
NG_007948.1:g.11311_11312dup , LRG_271:g.11311_11312dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.645-87_645-86dup (SOX10)	ENSP00000513596.1:n.645-87_645-86dup
ENST00000690831.1:c.*51-87_*51-86dup (SOX10)	ENSP00000510381.1:n.*51-87_*51-86dup
ENST00000396884.8:c.429-87_429-86dup (SOX10) MANE Select	ENSP00000380093.2:n.429-87_429-86dup
ENST00000360880.6:c.429-87_429-86dup (SOX10)	ENSP00000354130.2:n.429-87_429-86dup
ENST00000396884.6:c.429-87_429-86dup (SOX10)	ENSP00000380093.2:n.429-87_429-86dup
ENST00000405557.5:c.293+11051_293+11052dup (POLR2F)	ENSP00000384112.1:n.293+11051_293+11052dup
ENST00000407936.5:c.294-7933_294-7932dup (POLR2F)	ENSP00000385725.1:n.294-7933_294-7932dup
ENST00000427770.1:c.429-87_429-86dup (SOX10)	ENSP00000414853.1:n.429-87_429-86dup
ENST00000443002.5:c.*38+5911_*38+5912dup (POLR2F)	ENSP00000406826.1:n.*38+5911_*38+5912dup
ENST00000446929.5:c.59-87_59-86dup (SOX10)
ENST00000470555.1:n.71-87_71-86dup (SOX10)
NM_001301130.1:c.294-7933_294-7932dup (POLR2F)	NP_001288059.1:n.294-7933_294-7932dup
NM_001301131.1:c.293+11051_293+11052dup (POLR2F)	NP_001288060.1:n.293+11051_293+11052dup
NM_006941.3:c.429-87_429-86dup , LRG_271t1:c.429-87_429-86dup (SOX10)	NP_008872.1:n.429-87_429-86dup
XR_938243.1:n.158+5911_158+5912dup
NM_001363825.1:c.*38+5911_*38+5912dup (POLR2F)	NP_001350754.1:n.*38+5911_*38+5912dup
NM_001301130.2:c.294-7933_294-7932dup (POLR2F)	NP_001288059.1:n.294-7933_294-7932dup
NM_001301131.2:c.293+11051_293+11052dup (POLR2F)	NP_001288060.1:n.293+11051_293+11052dup
NM_006941.4:c.429-87_429-86dup (SOX10) MANE Select	NP_008872.1:n.429-87_429-86dup