Canonical Allele Identifier: CA5904250

Gene: USH1C

Linked Data

• dbSNP Id: rs745722516
• ExAC: 11:17523028 CCTT / C
• gnomAD v2: 11-17523028-CCTT-C
• MyVariant Identifiers: chr11:g.17523029_17523031del (hg19) ; chr11:g.17501482_17501484del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501485_17501487del , CM000673.2:g.17501485_17501487del	GRCh38
NC_000011.9:g.17523032_17523034del , CM000673.1:g.17523032_17523034del	GRCh37
NC_000011.8:g.17479608_17479610del	NCBI36
NG_011883.1:g.47933_47935del
NG_011883.2:g.47933_47935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2278_2280del MANE Select	ENSP00000005226.7:p.Lys760del
ENST00000318024.9:c.1378_1380del MANE Plus Clinical	ENSP00000317018.4:p.Lys460del
ENST00000005226.11:c.2278_2280del	ENSP00000005226.7:p.Lys760del
ENST00000318024.8:c.1378_1380del	ENSP00000317018.4:p.Lys460del
ENST00000526313.5:c.*92_*94del	ENSP00000432236.1:n.*92_*94del
ENST00000527020.5:c.1321_1323del	ENSP00000436934.1:p.Lys441del
ENST00000527720.5:c.1285_1287del	ENSP00000432944.1:p.Lys429del
ENST00000529563.5:n.262_264del
ENST00000534556.1:n.163_165del
NM_001297764.1:c.1321_1323del	NP_001284693.1:p.Lys441del
NM_005709.3:c.1378_1380del	NP_005700.2:p.Lys460del
NM_153676.3:c.2278_2280del	NP_710142.1:p.Lys760del
NR_123738.1:n.1413_1415del
XM_011519831.1:c.2302_2304del	XP_011518133.1:p.Lys768del
XM_011519832.1:c.1531_1533del	XP_011518134.1:p.Lys511del
XM_011519833.1:c.1428_1430del	XP_011518135.1:p.Arg477del
XR_930841.1:n.1749_1751del
XR_930842.1:n.1690_1692del
XM_011519832.3:c.1531_1533del	XP_011518134.1:p.Lys511del
XM_017017075.1:c.2278_2280del	XP_016872564.1:p.Lys760del
XR_001747717.2:n.1537_1539del
NM_153676.4:c.2278_2280del MANE Select	NP_710142.1:p.Lys760del
NM_001297764.2:c.1321_1323del	NP_001284693.1:p.Lys441del
NM_005709.4:c.1378_1380del MANE Plus Clinical	NP_005700.2:p.Lys460del
NR_123738.2:n.1413_1415del