Canonical Allele Identifier: CA2650526973
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215780126-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215780127del , CM000663.2:g.215780127del GRCh38
NC_000001.10:g.215953469del , CM000663.1:g.215953469del GRCh37
NC_000001.9:g.214020092del NCBI36
NG_009497.1:g.648270del
NG_009497.2:g.648322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10741-86del MANE Select ENSP00000305941.3:n.10741-86del
ENST00000674083.1:c.10741-86del ENSP00000501296.1:n.10741-86del
ENST00000307340.7:c.10741-86del ENSP00000305941.3:n.10741-86del
NM_206933.2:c.10741-86del NP_996816.2:n.10741-86del
NM_206933.3:c.10741-86del NP_996816.2:n.10741-86del
NM_206933.4:c.10741-86del MANE Select NP_996816.3:n.10741-86del
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