Canonical Allele Identifier: CA2650528368
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215817105-A-AGCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817106_215817108dup , CM000663.2:g.215817106_215817108dup GRCh38
NC_000001.10:g.215990448_215990450dup , CM000663.1:g.215990448_215990450dup GRCh37
NC_000001.9:g.214057071_214057073dup NCBI36
NG_009497.1:g.611289_611291dup
NG_009497.2:g.611341_611343dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9459_9461dup MANE Select ENSP00000305941.3:p.Ala3154_Lys3155insAla
ENST00000674083.1:c.9459_9461dup ENSP00000501296.1:p.Ala3154_Lys3155insAla
ENST00000307340.7:c.9459_9461dup ENSP00000305941.3:p.Ala3154_Lys3155insAla
NM_206933.2:c.9459_9461dup NP_996816.2:p.Ala3154_Lys3155insAla
NM_206933.3:c.9459_9461dup NP_996816.2:p.Ala3154_Lys3155insAla
NM_206933.4:c.9459_9461dup MANE Select NP_996816.3:p.Ala3154_Lys3155insAla
Search 100 bp 5'
Search 100 bp 3'