Canonical Allele Identifier: CA2650499482
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640862_215640863insAAAAACAAAACAAACCAAAAAAAAAAAAAAAAAAAAAAA , CM000663.2:g.215640862_215640863insAAAAACAAAACAAACCAAAAAAAAAAAAAAAAAAAAAAA GRCh38
NC_000001.10:g.215814204_215814205insAAAAACAAAACAAACCAAAAAAAAAAAAAAAAAAAAAAA , CM000663.1:g.215814204_215814205insAAAAACAAAACAAACCAAAAAAAAAAAAAAAAAAAAAAA GRCh37
NC_000001.9:g.213880827_213880828insAAAAACAAAACAAACCAAAAAAAAAAAAAAAAAAAAAAA NCBI36
NG_009497.1:g.787552_787553insTTTTTGGTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT
NG_009497.2:g.787604_787605insTTTTTGGTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-111_14792-110insTTTTTGGTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT MANE Select ENSP00000305941.3:n.14792-111_14792-110insTTTTTGGTTTGTTTTGTTT...
ENST00000674083.1:c.14792-111_14792-110insTTTTTGGTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT ENSP00000501296.1:n.14792-111_14792-110insTTTTTGGTTTGTTTTGTTT...
ENST00000307340.7:c.14792-111_14792-110insTTTTTGGTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT ENSP00000305941.3:n.14792-111_14792-110insTTTTTGGTTTGTTTTGTTT...
NM_206933.2:c.14792-111_14792-110insTTTTTGGTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT NP_996816.2:n.14792-111_14792-110insTTTTTGGTTTGTTTTGTTTTTTTTT...
NM_206933.3:c.14792-111_14792-110insTTTTTGGTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT NP_996816.2:n.14792-111_14792-110insTTTTTGGTTTGTTTTGTTTTTTTTT...
NM_206933.4:c.14792-111_14792-110insTTTTTGGTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT MANE Select NP_996816.3:n.14792-111_14792-110insTTTTTGGTTTGTTTTGTTTTTTTTT...