Canonical Allele Identifier: CA913072756
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215848554_215848556del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675212_215675214del , CM000663.2:g.215675212_215675214del GRCh38
NC_000001.10:g.215848554_215848556del , CM000663.1:g.215848554_215848556del GRCh37
NC_000001.9:g.213915177_213915179del NCBI36
NG_009497.1:g.753183_753185del
NG_009497.2:g.753235_753237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12697_12699del MANE Select ENSP00000305941.3:p.Trp4233del
ENST00000674083.1:c.12697_12699del ENSP00000501296.1:p.Trp4233del
ENST00000307340.7:c.12697_12699del ENSP00000305941.3:p.Trp4233del
NM_206933.2:c.12697_12699del NP_996816.2:p.Trp4233del
NM_206933.3:c.12697_12699del NP_996816.2:p.Trp4233del
NM_206933.4:c.12697_12699del MANE Select NP_996816.3:p.Trp4233del
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