Canonical Allele Identifier: CA2650504861
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215867134-G-GTTGTGT
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867135_215867140dup , CM000663.2:g.215867135_215867140dup GRCh38
NC_000001.10:g.216040477_216040482dup , CM000663.1:g.216040477_216040482dup GRCh37
NC_000001.9:g.214107100_214107105dup NCBI36
NG_009497.1:g.561257_561262dup
NG_009497.2:g.561309_561314dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8712_8717dup MANE Select ENSP00000305941.3:p.His2905_Asn2906insLysHis
ENST00000674083.1:c.8712_8717dup ENSP00000501296.1:p.His2905_Asn2906insLysHis
ENST00000307340.7:c.8712_8717dup ENSP00000305941.3:p.His2905_Asn2906insLysHis
NM_206933.2:c.8712_8717dup NP_996816.2:p.His2905_Asn2906insLysHis
NM_206933.3:c.8712_8717dup NP_996816.2:p.His2905_Asn2906insLysHis
NM_206933.4:c.8712_8717dup MANE Select NP_996816.3:p.His2905_Asn2906insLysHis
Search 100 bp 5'
Search 100 bp 3'