Canonical Allele Identifier: CA658822640
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 554620
ClinVar RCV Id: RCV000670292
dbSNP Id: rs1553252363
MyVariant Identifiers: chr1:g.215674355del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674358del , CM000663.2:g.215674358del GRCh38
NC_000001.10:g.215847700del , CM000663.1:g.215847700del GRCh37
NC_000001.9:g.213914323del NCBI36
NG_009497.1:g.754042del
NG_009497.2:g.754094del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13556del MANE Select ENSP00000305941.3:p.Leu4519Ter
ENST00000674083.1:c.13556del ENSP00000501296.1:p.Leu4519Ter
ENST00000307340.7:c.13556del ENSP00000305941.3:p.Leu4519Ter
NM_206933.2:c.13556del NP_996816.2:p.Leu4519Ter
NM_206933.3:c.13556del NP_996816.2:p.Leu4519Ter
NM_206933.4:c.13556del MANE Select NP_996816.3:p.Leu4519Ter