Canonical Allele Identifier: CA935537114

Gene: USH1C

Linked Data

• gnomAD v3: 11-17509554-GAT-G
• gnomAD v4: 11-17509554-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509555_17509556del , CM000673.2:g.17509555_17509556del	GRCh38
NC_000011.9:g.17531102_17531103del , CM000673.1:g.17531102_17531103del	GRCh37
NC_000011.8:g.17487678_17487679del	NCBI36
NG_011883.1:g.39861_39862del
NG_011883.2:g.39861_39862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1813_1814del MANE Select	ENSP00000005226.7:p.Ile605ProfsTer?
ENST00000318024.9:c.1285-7576_1285-7575del MANE Plus Clinical	ENSP00000317018.4:n.1285-7576_1285-7575del
ENST00000005226.11:c.1813_1814del	ENSP00000005226.7:p.Ile605ProfsTer?
ENST00000318024.8:c.1285-7576_1285-7575del	ENSP00000317018.4:n.1285-7576_1285-7575del
ENST00000526313.5:c.1211-7576_1211-7575del	ENSP00000432236.1:n.1211-7576_1211-7575del
ENST00000527020.5:c.1228-7576_1228-7575del	ENSP00000436934.1:n.1228-7576_1228-7575del
ENST00000527720.5:c.1192-7576_1192-7575del	ENSP00000432944.1:n.1192-7576_1192-7575del
ENST00000529563.5:n.168+6899_168+6900del
NM_001297764.1:c.1228-7576_1228-7575del	NP_001284693.1:n.1228-7576_1228-7575del
NM_005709.3:c.1285-7576_1285-7575del	NP_005700.2:n.1285-7576_1285-7575del
NM_153676.3:c.1813_1814del	NP_710142.1:p.Ile605ProfsTer?
NR_123738.1:n.1320-7576_1320-7575del
XM_011519831.1:c.1837_1838del	XP_011518133.1:p.Ile613ProfsTer?
XM_011519832.1:c.1437+2346_1437+2347del	XP_011518134.1:n.1437+2346_1437+2347del
XM_011519833.1:c.1334+6685_1334+6686del	XP_011518135.1:n.1334+6685_1334+6686del
XR_930841.1:n.1655+2346_1655+2347del
XR_930842.1:n.1596+2346_1596+2347del
XM_011519832.3:c.1437+2346_1437+2347del	XP_011518134.1:n.1437+2346_1437+2347del
XM_017017072.1:c.1837_1838del	XP_016872561.1:p.Ile613ProfsTer?
XM_017017073.1:c.1780_1781del	XP_016872562.1:p.Ile594ProfsTer?
XM_017017074.1:c.1555-327_1555-326del	XP_016872563.1:n.1555-327_1555-326del
XM_017017075.1:c.1813_1814del	XP_016872564.1:p.Ile605ProfsTer?
XR_001747717.2:n.1443+6685_1443+6686del
NM_153676.4:c.1813_1814del MANE Select	NP_710142.1:p.Ile605ProfsTer?
NM_001297764.2:c.1228-7576_1228-7575del	NP_001284693.1:n.1228-7576_1228-7575del
NM_005709.4:c.1285-7576_1285-7575del MANE Plus Clinical	NP_005700.2:n.1285-7576_1285-7575del
NR_123738.2:n.1320-7576_1320-7575del