Canonical Allele Identifier: CA2612674192

Gene: USH1C

Linked Data

• gnomAD v4: 11-17501511-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501515del , CM000673.2:g.17501515del	GRCh38
NC_000011.9:g.17523062del , CM000673.1:g.17523062del	GRCh37
NC_000011.8:g.17479638del	NCBI36
NG_011883.1:g.47905del
NG_011883.2:g.47905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2250del MANE Select	ENSP00000005226.7:p.Lys751ArgfsTer14
ENST00000318024.9:c.1350del MANE Plus Clinical	ENSP00000317018.4:p.Lys451ArgfsTer14
ENST00000005226.11:c.2250del	ENSP00000005226.7:p.Lys751ArgfsTer14
ENST00000318024.8:c.1350del	ENSP00000317018.4:p.Lys451ArgfsTer14
ENST00000526313.5:c.*64del	ENSP00000432236.1:n.*64del
ENST00000527020.5:c.1293del	ENSP00000436934.1:p.Lys432ArgfsTer14
ENST00000527720.5:c.1257del	ENSP00000432944.1:p.Lys420ArgfsTer14
ENST00000529563.5:n.234del
ENST00000534556.1:n.135del
NM_001297764.1:c.1293del	NP_001284693.1:p.Lys432ArgfsTer14
NM_005709.3:c.1350del	NP_005700.2:p.Lys451ArgfsTer14
NM_153676.3:c.2250del	NP_710142.1:p.Lys751ArgfsTer14
NR_123738.1:n.1385del
XM_011519831.1:c.2274del	XP_011518133.1:p.Lys759ArgfsTer14
XM_011519832.1:c.1503del	XP_011518134.1:p.Lys502ArgfsTer14
XM_011519833.1:c.1400del	XP_011518135.1:p.Gly467GlufsTer?
XR_930841.1:n.1721del
XR_930842.1:n.1662del
XM_011519832.3:c.1503del	XP_011518134.1:p.Lys502ArgfsTer14
XM_017017075.1:c.2250del	XP_016872564.1:p.Lys751ArgfsTer14
XR_001747717.2:n.1509del
NM_153676.4:c.2250del MANE Select	NP_710142.1:p.Lys751ArgfsTer14
NM_001297764.2:c.1293del	NP_001284693.1:p.Lys432ArgfsTer14
NM_005709.4:c.1350del MANE Plus Clinical	NP_005700.2:p.Lys451ArgfsTer14
NR_123738.2:n.1385del