Canonical Allele Identifier: CA1394286
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs745547943
ExAC: 1:215990327 GA / G
gnomAD v2: 1-215990327-GA-G
gnomAD v4: 1-215816985-GA-G
MyVariant Identifiers: chr1:g.215990328del (hg19) chr1:g.215816986del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816989del , CM000663.2:g.215816989del GRCh38
NC_000001.10:g.215990331del , CM000663.1:g.215990331del GRCh37
NC_000001.9:g.214056954del NCBI36
NG_009497.1:g.611411del
NG_009497.2:g.611463del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+11del MANE Select ENSP00000305941.3:n.9570+11del
ENST00000674083.1:c.9570+11del ENSP00000501296.1:n.9570+11del
ENST00000307340.7:c.9570+11del ENSP00000305941.3:n.9570+11del
NM_206933.2:c.9570+11del NP_996816.2:n.9570+11del
NM_206933.3:c.9570+11del NP_996816.2:n.9570+11del
NM_206933.4:c.9570+11del MANE Select NP_996816.3:n.9570+11del
Search 100 bp 5'
Search 100 bp 3'