Canonical Allele Identifier: CA2650500284
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671364_215671372del , CM000663.2:g.215671364_215671372del GRCh38
NC_000001.10:g.215844706_215844714del , CM000663.1:g.215844706_215844714del GRCh37
NC_000001.9:g.213911329_213911337del NCBI36
NG_009497.1:g.757025_757033del
NG_009497.2:g.757077_757085del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13812-79_13812-71del MANE Select ENSP00000305941.3:n.13812-79_13812-71del
ENST00000674083.1:c.13812-79_13812-71del ENSP00000501296.1:n.13812-79_13812-71del
ENST00000307340.7:c.13812-79_13812-71del ENSP00000305941.3:n.13812-79_13812-71del
NM_206933.2:c.13812-79_13812-71del NP_996816.2:n.13812-79_13812-71del
NM_206933.3:c.13812-79_13812-71del NP_996816.2:n.13812-79_13812-71del
NM_206933.4:c.13812-79_13812-71del MANE Select NP_996816.3:n.13812-79_13812-71del