Canonical Allele Identifier: CA10605752
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 287391
ClinVar RCV Id: RCV000333423 RCV000985188
dbSNP Id: rs886043626
MyVariant Identifiers: chr17:g.72915620del (hg19) chr17:g.74919525del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919525del , CM000679.2:g.74919525del GRCh38
NC_000017.10:g.72915620del , CM000679.1:g.72915620del GRCh37
NC_000017.9:g.70427215del NCBI36
NG_007882.1:g.8732del
NG_033062.1:g.251del
NG_007882.2:g.8739del
NG_033062.2:g.251del

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.1311del MANE Select ENSP00000480279.1:p.Lys438ArgfsTer6
ENST00000579243.1:c.*910del ENSP00000462568.1:n.*910del
ENST00000614341.4:c.1311del ENSP00000480279.1:p.Lys438ArgfsTer6
NM_001282489.2:c.1002del NP_001269418.1:p.Lys335ArgfsTer6
NM_173477.4:c.1311del NP_775748.2:p.Lys438ArgfsTer6
XM_011524296.1:c.1002del XP_011522598.1:p.Lys335ArgfsTer6
XM_011524296.2:c.1002del XP_011522598.1:p.Lys335ArgfsTer6
NM_173477.5:c.1311del MANE Select NP_775748.2:p.Lys438ArgfsTer6
NM_001282489.3:c.1002del NP_001269418.1:p.Lys335ArgfsTer6
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