Canonical Allele Identifier: CA1012179208
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v3: 1-215675317-TTTTCC-T
gnomAD v4: 1-215675317-TTTTCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675318_215675322del , CM000663.2:g.215675318_215675322del GRCh38
NC_000001.10:g.215848660_215848664del , CM000663.1:g.215848660_215848664del GRCh37
NC_000001.9:g.213915283_213915287del NCBI36
NG_009497.1:g.753075_753079del
NG_009497.2:g.753127_753131del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12589_12593del MANE Select ENSP00000305941.3:p.Gly4197SerfsTer19
ENST00000674083.1:c.12589_12593del ENSP00000501296.1:p.Gly4197SerfsTer19
ENST00000307340.7:c.12589_12593del ENSP00000305941.3:p.Gly4197SerfsTer19
NM_206933.2:c.12589_12593del NP_996816.2:p.Gly4197SerfsTer19
NM_206933.3:c.12589_12593del NP_996816.2:p.Gly4197SerfsTer19
NM_206933.4:c.12589_12593del MANE Select NP_996816.3:p.Gly4197SerfsTer19
Search 100 bp 5'
Search 100 bp 3'