Canonical Allele Identifier: CA2612677109

Gene: USH1C

Linked Data

• gnomAD v4: 11-17509368-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509371del , CM000673.2:g.17509371del	GRCh38
NC_000011.9:g.17530918del , CM000673.1:g.17530918del	GRCh37
NC_000011.8:g.17487494del	NCBI36
NG_011883.1:g.40048del
NG_011883.2:g.40048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2000del MANE Select	ENSP00000005226.7:p.Pro667HisfsTer?
ENST00000318024.9:c.1285-7389del MANE Plus Clinical	ENSP00000317018.4:n.1285-7389del
ENST00000005226.11:c.2000del	ENSP00000005226.7:p.Pro667HisfsTer?
ENST00000318024.8:c.1285-7389del	ENSP00000317018.4:n.1285-7389del
ENST00000526313.5:c.1211-7389del	ENSP00000432236.1:n.1211-7389del
ENST00000527020.5:c.1228-7389del	ENSP00000436934.1:n.1228-7389del
ENST00000527720.5:c.1192-7389del	ENSP00000432944.1:n.1192-7389del
ENST00000529563.5:n.168+7086del
NM_001297764.1:c.1228-7389del	NP_001284693.1:n.1228-7389del
NM_005709.3:c.1285-7389del	NP_005700.2:n.1285-7389del
NM_153676.3:c.2000del	NP_710142.1:p.Pro667HisfsTer?
NR_123738.1:n.1320-7389del
XM_011519831.1:c.2024del	XP_011518133.1:p.Pro675HisfsTer?
XM_011519832.1:c.1437+2533del	XP_011518134.1:n.1437+2533del
XM_011519833.1:c.1334+6872del	XP_011518135.1:n.1334+6872del
XR_930841.1:n.1655+2533del
XR_930842.1:n.1596+2533del
XM_011519832.3:c.1437+2533del	XP_011518134.1:n.1437+2533del
XM_017017072.1:c.2024del	XP_016872561.1:p.Pro675HisfsTer?
XM_017017073.1:c.1967del	XP_016872562.1:p.Pro656HisfsTer?
XM_017017074.1:c.1555-140del	XP_016872563.1:n.1555-140del
XM_017017075.1:c.2000del	XP_016872564.1:p.Pro667HisfsTer?
XR_001747717.2:n.1443+6872del
NM_153676.4:c.2000del MANE Select	NP_710142.1:p.Pro667HisfsTer?
NM_001297764.2:c.1228-7389del	NP_001284693.1:n.1228-7389del
NM_005709.4:c.1285-7389del MANE Plus Clinical	NP_005700.2:n.1285-7389del
NR_123738.2:n.1320-7389del