Canonical Allele Identifier: CA1220359699
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640610_215640632delinsGCGTCGCCCTCCGTCGGTTAACA , CM000663.2:g.215640610_215640632delinsGCGTCGCCCTCCGTCGGTTAACA GRCh38
NC_000001.10:g.215813952_215813974delinsGCGTCGCCCTCCGTCGGTTAACA , CM000663.1:g.215813952_215813974delinsGCGTCGCCCTCCGTCGGTTAACA GRCh37
NC_000001.9:g.213880575_213880597delinsGCGTCGCCCTCCGTCGGTTAACA NCBI36
NG_009497.1:g.787765_787787delinsTGTTAACCGACGGAGGGCGACGC
NG_009497.2:g.787817_787839delinsTGTTAACCGACGGAGGGCGACGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14894_14916delinsTGTTAACCGACGGAGGGCGACGC MANE Select ENSP00000305941.3:p.Val4965=
ENST00000674083.1:c.14894_14916delinsTGTTAACCGACGGAGGGCGACGC ENSP00000501296.1:p.Val4965=
ENST00000307340.7:c.14894_14916delinsTGTTAACCGACGGAGGGCGACGC ENSP00000305941.3:p.Val4965=
NM_206933.2:c.14894_14916delinsTGTTAACCGACGGAGGGCGACGC NP_996816.2:p.Val4965=
NM_206933.3:c.14894_14916delinsTGTTAACCGACGGAGGGCGACGC NP_996816.2:p.Val4965=
NM_206933.4:c.14894_14916delinsTGTTAACCGACGGAGGGCGACGC MANE Select NP_996816.3:p.Val4965=
Search 100 bp 5'
Search 100 bp 3'