Canonical Allele Identifier: CA528705102
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2997506
ClinVar RCV Id: RCV003851625
dbSNP Id: rs1558071945
gnomAD v2: 1-215901367-CTT-C
gnomAD v3: 1-215728025-CTT-C
gnomAD v4: 1-215728025-CTT-C
MyVariant Identifiers: chr1:g.215901368_215901369del (hg19) chr1:g.215728026_215728027del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728026_215728027del , CM000663.2:g.215728026_215728027del GRCh38
NC_000001.10:g.215901368_215901369del , CM000663.1:g.215901368_215901369del GRCh37
NC_000001.9:g.213967991_213967992del NCBI36
NG_009497.1:g.700370_700371del
NG_009497.2:g.700422_700423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12066+3_12066+4del MANE Select ENSP00000305941.3:n.12066+3_12066+4del
ENST00000674083.1:c.12066+3_12066+4del ENSP00000501296.1:n.12066+3_12066+4del
ENST00000307340.7:c.12066+3_12066+4del ENSP00000305941.3:n.12066+3_12066+4del
NM_206933.2:c.12066+3_12066+4del NP_996816.2:n.12066+3_12066+4del
NM_206933.3:c.12066+3_12066+4del NP_996816.2:n.12066+3_12066+4del
NM_206933.4:c.12066+3_12066+4del MANE Select NP_996816.3:n.12066+3_12066+4del
Search 100 bp 5'
Search 100 bp 3'