Canonical Allele Identifier: CA2650528422
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817333_215817336del , CM000663.2:g.215817333_215817336del GRCh38
NC_000001.10:g.215990675_215990678del , CM000663.1:g.215990675_215990678del GRCh37
NC_000001.9:g.214057298_214057301del NCBI36
NG_009497.1:g.611061_611064del
NG_009497.2:g.611113_611116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9372-141_9372-138del MANE Select ENSP00000305941.3:n.9372-141_9372-138del
ENST00000674083.1:c.9372-141_9372-138del ENSP00000501296.1:n.9372-141_9372-138del
ENST00000307340.7:c.9372-141_9372-138del ENSP00000305941.3:n.9372-141_9372-138del
NM_206933.2:c.9372-141_9372-138del NP_996816.2:n.9372-141_9372-138del
NM_206933.3:c.9372-141_9372-138del NP_996816.2:n.9372-141_9372-138del
NM_206933.4:c.9372-141_9372-138del MANE Select NP_996816.3:n.9372-141_9372-138del