Canonical Allele Identifier: CA2612677090

Gene: USH1C

Linked Data

• gnomAD v4: 11-17509359-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509363del , CM000673.2:g.17509363del	GRCh38
NC_000011.9:g.17530910del , CM000673.1:g.17530910del	GRCh37
NC_000011.8:g.17487486del	NCBI36
NG_011883.1:g.40057del
NG_011883.2:g.40057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2009del MANE Select	ENSP00000005226.7:p.Pro670GlnfsTer?
ENST00000318024.9:c.1285-7380del MANE Plus Clinical	ENSP00000317018.4:n.1285-7380del
ENST00000005226.11:c.2009del	ENSP00000005226.7:p.Pro670GlnfsTer?
ENST00000318024.8:c.1285-7380del	ENSP00000317018.4:n.1285-7380del
ENST00000526313.5:c.1211-7380del	ENSP00000432236.1:n.1211-7380del
ENST00000527020.5:c.1228-7380del	ENSP00000436934.1:n.1228-7380del
ENST00000527720.5:c.1192-7380del	ENSP00000432944.1:n.1192-7380del
ENST00000529563.5:n.168+7095del
NM_001297764.1:c.1228-7380del	NP_001284693.1:n.1228-7380del
NM_005709.3:c.1285-7380del	NP_005700.2:n.1285-7380del
NM_153676.3:c.2009del	NP_710142.1:p.Pro670GlnfsTer?
NR_123738.1:n.1320-7380del
XM_011519831.1:c.2033del	XP_011518133.1:p.Pro678GlnfsTer?
XM_011519832.1:c.1437+2542del	XP_011518134.1:n.1437+2542del
XM_011519833.1:c.1334+6881del	XP_011518135.1:n.1334+6881del
XR_930841.1:n.1655+2542del
XR_930842.1:n.1596+2542del
XM_011519832.3:c.1437+2542del	XP_011518134.1:n.1437+2542del
XM_017017072.1:c.2033del	XP_016872561.1:p.Pro678GlnfsTer30
XM_017017073.1:c.1976del	XP_016872562.1:p.Pro659GlnfsTer30
XM_017017074.1:c.1555-131del	XP_016872563.1:n.1555-131del
XM_017017075.1:c.2009del	XP_016872564.1:p.Pro670GlnfsTer?
XR_001747717.2:n.1443+6881del
NM_153676.4:c.2009del MANE Select	NP_710142.1:p.Pro670GlnfsTer?
NM_001297764.2:c.1228-7380del	NP_001284693.1:n.1228-7380del
NM_005709.4:c.1285-7380del MANE Plus Clinical	NP_005700.2:n.1285-7380del
NR_123738.2:n.1320-7380del