Canonical Allele Identifier: CA731342474
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs59113488
MyVariant Identifiers: chr1:g.215901924_215901925insCACACACACACACA (hg19) chr1:g.215728582_215728583insCACACACACACACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728582_215728583insCACACACACACACA , CM000663.2:g.215728582_215728583insCACACACACACACA GRCh38
NC_000001.10:g.215901924_215901925insCACACACACACACA , CM000663.1:g.215901924_215901925insCACACACACACACA GRCh37
NC_000001.9:g.213968547_213968548insCACACACACACACA NCBI36
NG_009497.1:g.699814_699815insTGTGTGTGTGTGTG
NG_009497.2:g.699866_699867insTGTGTGTGTGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-199_11712-198insTGTGTGTGTGTGTG MANE Select ENSP00000305941.3:n.11712-199_11712-198insTGTGTGTGTGTGTG
ENST00000674083.1:c.11712-199_11712-198insTGTGTGTGTGTGTG ENSP00000501296.1:n.11712-199_11712-198insTGTGTGTGTGTGTG
ENST00000307340.7:c.11712-199_11712-198insTGTGTGTGTGTGTG ENSP00000305941.3:n.11712-199_11712-198insTGTGTGTGTGTGTG
NM_206933.2:c.11712-199_11712-198insTGTGTGTGTGTGTG NP_996816.2:n.11712-199_11712-198insTGTGTGTGTGTGTG
NM_206933.3:c.11712-199_11712-198insTGTGTGTGTGTGTG NP_996816.2:n.11712-199_11712-198insTGTGTGTGTGTGTG
NM_206933.4:c.11712-199_11712-198insTGTGTGTGTGTGTG MANE Select NP_996816.3:n.11712-199_11712-198insTGTGTGTGTGTGTG
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