Canonical Allele Identifier: CA37395767
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1311988583
gnomAD v3: 1-215728582-G-GACACACACACACAC
gnomAD v4: 1-215728582-G-GACACACACACACAC
MyVariant Identifiers: chr1:g.215901924_215901925insACACACACACACAC (hg19) chr1:g.215728582_215728583insACACACACACACAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728593_215728606dup , CM000663.2:g.215728593_215728606dup GRCh38
NC_000001.10:g.215901935_215901948dup , CM000663.1:g.215901935_215901948dup GRCh37
NC_000001.9:g.213968558_213968571dup NCBI36
NG_009497.1:g.699801_699814dup
NG_009497.2:g.699853_699866dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-212_11712-199dup MANE Select ENSP00000305941.3:n.11712-212_11712-199dup
ENST00000674083.1:c.11712-212_11712-199dup ENSP00000501296.1:n.11712-212_11712-199dup
ENST00000307340.7:c.11712-212_11712-199dup ENSP00000305941.3:n.11712-212_11712-199dup
NM_206933.2:c.11712-212_11712-199dup NP_996816.2:n.11712-212_11712-199dup
NM_206933.3:c.11712-212_11712-199dup NP_996816.2:n.11712-212_11712-199dup
NM_206933.4:c.11712-212_11712-199dup MANE Select NP_996816.3:n.11712-212_11712-199dup
Search 100 bp 5'
Search 100 bp 3'