Canonical Allele Identifier: CA529002148
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1491406140
gnomAD v2: 1-215901925-A-ACACACACC
MyVariant Identifiers: chr1:g.215901925_215901926insCACACACC (hg19) chr1:g.215728583_215728584insCACACACC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728590_215728591insCCACACAC , CM000663.2:g.215728590_215728591insCCACACAC GRCh38
NC_000001.10:g.215901932_215901933insCCACACAC , CM000663.1:g.215901932_215901933insCCACACAC GRCh37
NC_000001.9:g.213968555_213968556insCCACACAC NCBI36
NG_009497.1:g.699813_699814insGGTGTGTG
NG_009497.2:g.699865_699866insGGTGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-200_11712-199insGGTGTGTG MANE Select ENSP00000305941.3:n.11712-200_11712-199insGGTGTGTG
ENST00000674083.1:c.11712-200_11712-199insGGTGTGTG ENSP00000501296.1:n.11712-200_11712-199insGGTGTGTG
ENST00000307340.7:c.11712-200_11712-199insGGTGTGTG ENSP00000305941.3:n.11712-200_11712-199insGGTGTGTG
NM_206933.2:c.11712-200_11712-199insGGTGTGTG NP_996816.2:n.11712-200_11712-199insGGTGTGTG
NM_206933.3:c.11712-200_11712-199insGGTGTGTG NP_996816.2:n.11712-200_11712-199insGGTGTGTG
NM_206933.4:c.11712-200_11712-199insGGTGTGTG MANE Select NP_996816.3:n.11712-200_11712-199insGGTGTGTG
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