Canonical Allele Identifier: CA340026

Gene: USH1G

Linked Data

• ClinVar Variation Id: 2916
• ClinVar RCV Id: RCV000003050 ; RCV000216021
• dbSNP Id: rs397515345
• MyVariant Identifiers: chr17:g.72916080_72916099del (hg19) ; chr17:g.74919985_74920004del (hg38)
• PubMed: PMID:11941484 ; PMID:12588794 ; PMID:20301442

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919988_74920007del , CM000679.2:g.74919988_74920007del	GRCh38
NC_000017.10:g.72916083_72916102del , CM000679.1:g.72916083_72916102del	GRCh37
NC_000017.9:g.70427678_70427697del	NCBI36
NG_007882.1:g.8253_8272del
NG_033062.1:g.714_733del
NG_007882.2:g.8260_8279del
NG_033062.2:g.714_733del

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.832_851del MANE Select	ENSP00000480279.1:p.Ser278ProfsTer?
ENST00000579243.1:c.*431_*450del	ENSP00000462568.1:n.*431_*450del
ENST00000614341.4:c.832_851del	ENSP00000480279.1:p.Ser278ProfsTer?
NM_001282489.2:c.523_542del	NP_001269418.1:p.Ser175ProfsTer?
NM_173477.4:c.832_851del	NP_775748.2:p.Ser278ProfsTer?
XM_011524296.1:c.523_542del	XP_011522598.1:p.Ser175ProfsTer?
XM_011524296.2:c.523_542del	XP_011522598.1:p.Ser175ProfsTer?
NM_173477.5:c.832_851del MANE Select	NP_775748.2:p.Ser278ProfsTer?
NM_001282489.3:c.523_542del	NP_001269418.1:p.Ser175ProfsTer?