Canonical Allele Identifier: CA912971879

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519747_17519768del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498201_17498222del , CM000673.2:g.17498201_17498222del	GRCh38
NC_000011.9:g.17519748_17519769del , CM000673.1:g.17519748_17519769del	GRCh37
NC_000011.8:g.17476324_17476345del	NCBI36
NG_011883.1:g.51196_51217del
NG_011883.2:g.51196_51217del

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2431_2452del MANE Select	ENSP00000005226.7:p.Thr811LeufsTer?
ENST00000318024.9:c.1531_1552del MANE Plus Clinical	ENSP00000317018.4:p.Thr511LeufsTer?
ENST00000005226.11:c.2431_2452del	ENSP00000005226.7:p.Thr811LeufsTer?
ENST00000318024.8:c.1531_1552del	ENSP00000317018.4:p.Thr511LeufsTer?
ENST00000526313.5:c.*245_*266del	ENSP00000432236.1:n.*245_*266del
ENST00000527020.5:c.1474_1495del	ENSP00000436934.1:p.Thr492LeufsTer?
ENST00000527720.5:c.1438_1459del	ENSP00000432944.1:p.Thr480LeufsTer?
ENST00000529563.5:n.415_436del
NM_001297764.1:c.1474_1495del	NP_001284693.1:p.Thr492LeufsTer?
NM_005709.3:c.1531_1552del	NP_005700.2:p.Thr511LeufsTer?
NM_153676.3:c.2431_2452del	NP_710142.1:p.Thr811LeufsTer?
NR_123738.1:n.1566_1587del
XM_011519831.1:c.2455_2476del	XP_011518133.1:p.Thr819LeufsTer?
XM_011519832.1:c.1684_1705del	XP_011518134.1:p.Thr562LeufsTer?
XM_011519832.3:c.1684_1705del	XP_011518134.1:p.Thr562LeufsTer?
XM_017017075.1:c.2431_2452del	XP_016872564.1:p.Thr811LeufsTer?
XR_001747717.2:n.1690_1711del
NM_153676.4:c.2431_2452del MANE Select	NP_710142.1:p.Thr811LeufsTer?
NM_001297764.2:c.1474_1495del	NP_001284693.1:p.Thr492LeufsTer?
NM_005709.4:c.1531_1552del MANE Plus Clinical	NP_005700.2:p.Thr511LeufsTer?
NR_123738.2:n.1566_1587del