Canonical Allele Identifier: CA645509092
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438013
dbSNP Id: rs1553252388

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674564_215674576delinsCAAG , CM000663.2:g.215674564_215674576delinsCAAG GRCh38
NC_000001.10:g.215847906_215847918delinsCAAG , CM000663.1:g.215847906_215847918delinsCAAG GRCh37
NC_000001.9:g.213914529_213914541delinsCAAG NCBI36
NG_009497.1:g.753821_753833delinsCTTG
NG_009497.2:g.753873_753885delinsCTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.13335_13347delinsCTTG MANE Select ENSP00000305941.3:p.Glu4445_Ser4449delins...
ENST00000674083.1:c.13335_13347delinsCTTG ENSP00000501296.1:p.Glu4445_Ser4449delins...
ENST00000307340.7:c.13335_13347delinsCTTG ENSP00000305941.3:p.Glu4445_Ser4449delins...
NM_206933.2:c.13335_13347delinsCTTG NP_996816.2:p.Glu4445_Ser4449delinsAspLeu...
NM_206933.3:c.13335_13347delinsCTTG NP_996816.2:p.Glu4445_Ser4449delinsAspLeu...
NM_206933.4:c.13335_13347delinsCTTG MANE Select NP_996816.3:p.Glu4445_Ser4449delinsAspLeu...