Canonical Allele Identifier: CA912971848

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17531091_17531092del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509545_17509546del , CM000673.2:g.17509545_17509546del	GRCh38
NC_000011.9:g.17531092_17531093del , CM000673.1:g.17531092_17531093del	GRCh37
NC_000011.8:g.17487668_17487669del	NCBI36
NG_011883.1:g.39872_39873del
NG_011883.2:g.39872_39873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1824_1825del MANE Select	ENSP00000005226.7:p.Pro609IlefsTer?
ENST00000318024.9:c.1285-7565_1285-7564del MANE Plus Clinical	ENSP00000317018.4:n.1285-7565_1285-7564del
ENST00000005226.11:c.1824_1825del	ENSP00000005226.7:p.Pro609IlefsTer?
ENST00000318024.8:c.1285-7565_1285-7564del	ENSP00000317018.4:n.1285-7565_1285-7564del
ENST00000526313.5:c.1211-7565_1211-7564del	ENSP00000432236.1:n.1211-7565_1211-7564del
ENST00000527020.5:c.1228-7565_1228-7564del	ENSP00000436934.1:n.1228-7565_1228-7564del
ENST00000527720.5:c.1192-7565_1192-7564del	ENSP00000432944.1:n.1192-7565_1192-7564del
ENST00000529563.5:n.168+6910_168+6911del
NM_001297764.1:c.1228-7565_1228-7564del	NP_001284693.1:n.1228-7565_1228-7564del
NM_005709.3:c.1285-7565_1285-7564del	NP_005700.2:n.1285-7565_1285-7564del
NM_153676.3:c.1824_1825del	NP_710142.1:p.Pro609IlefsTer?
NR_123738.1:n.1320-7565_1320-7564del
XM_011519831.1:c.1848_1849del	XP_011518133.1:p.Pro617IlefsTer?
XM_011519832.1:c.1437+2357_1437+2358del	XP_011518134.1:n.1437+2357_1437+2358del
XM_011519833.1:c.1334+6696_1334+6697del	XP_011518135.1:n.1334+6696_1334+6697del
XR_930841.1:n.1655+2357_1655+2358del
XR_930842.1:n.1596+2357_1596+2358del
XM_011519832.3:c.1437+2357_1437+2358del	XP_011518134.1:n.1437+2357_1437+2358del
XM_017017072.1:c.1848_1849del	XP_016872561.1:p.Pro617IlefsTer?
XM_017017073.1:c.1791_1792del	XP_016872562.1:p.Pro598IlefsTer?
XM_017017074.1:c.1555-316_1555-315del	XP_016872563.1:n.1555-316_1555-315del
XM_017017075.1:c.1824_1825del	XP_016872564.1:p.Pro609IlefsTer?
XR_001747717.2:n.1443+6696_1443+6697del
NM_153676.4:c.1824_1825del MANE Select	NP_710142.1:p.Pro609IlefsTer?
NM_001297764.2:c.1228-7565_1228-7564del	NP_001284693.1:n.1228-7565_1228-7564del
NM_005709.4:c.1285-7565_1285-7564del MANE Plus Clinical	NP_005700.2:n.1285-7565_1285-7564del
NR_123738.2:n.1320-7565_1320-7564del