Canonical Allele Identifier: CA2697548466

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2747541
• ClinVar RCV Id: RCV003570508

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498245del , CM000673.2:g.17498245del	GRCh38
NC_000011.9:g.17519792del , CM000673.1:g.17519792del	GRCh37
NC_000011.8:g.17476368del	NCBI36
NG_011883.1:g.51172del
NG_011883.2:g.51172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2407del MANE Select	ENSP00000005226.7:p.Met803TrpfsTer8
ENST00000318024.9:c.1507del MANE Plus Clinical	ENSP00000317018.4:p.Met503TrpfsTer8
ENST00000005226.11:c.2407del	ENSP00000005226.7:p.Met803TrpfsTer8
ENST00000318024.8:c.1507del	ENSP00000317018.4:p.Met503TrpfsTer8
ENST00000526313.5:c.*221del	ENSP00000432236.1:n.*221del
ENST00000527020.5:c.1450del	ENSP00000436934.1:p.Met484TrpfsTer8
ENST00000527720.5:c.1414del	ENSP00000432944.1:p.Met472TrpfsTer8
ENST00000529563.5:n.391del
NM_001297764.1:c.1450del	NP_001284693.1:p.Met484TrpfsTer8
NM_005709.3:c.1507del	NP_005700.2:p.Met503TrpfsTer8
NM_153676.3:c.2407del	NP_710142.1:p.Met803TrpfsTer8
NR_123738.1:n.1542del
XM_011519831.1:c.2431del	XP_011518133.1:p.Met811TrpfsTer8
XM_011519832.1:c.1660del	XP_011518134.1:p.Met554TrpfsTer8
XM_011519832.3:c.1660del	XP_011518134.1:p.Met554TrpfsTer8
XM_017017075.1:c.2407del	XP_016872564.1:p.Met803TrpfsTer8
XR_001747717.2:n.1666del
NM_153676.4:c.2407del MANE Select	NP_710142.1:p.Met803TrpfsTer8
NM_001297764.2:c.1450del	NP_001284693.1:p.Met484TrpfsTer8
NM_005709.4:c.1507del MANE Plus Clinical	NP_005700.2:p.Met503TrpfsTer8
NR_123738.2:n.1542del