Canonical Allele Identifier: CA731342482
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs59113488
MyVariant Identifiers: chr1:g.215901924_215901925insCACACACA (hg19) chr1:g.215728582_215728583insCACACACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728582_215728583insCACACACA , CM000663.2:g.215728582_215728583insCACACACA GRCh38
NC_000001.10:g.215901924_215901925insCACACACA , CM000663.1:g.215901924_215901925insCACACACA GRCh37
NC_000001.9:g.213968547_213968548insCACACACA NCBI36
NG_009497.1:g.699814_699815insTGTGTGTG
NG_009497.2:g.699866_699867insTGTGTGTG

Transcript Alleles

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