Canonical Allele Identifier: CA2650498168

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640839-C-CAAAACAAAAAAAAAAAAAAAAAAAAAAAACAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640839_215640840insAAAACAAAAAAAAAAAAAAAAAAAAAAAACAAAA , CM000663.2:g.215640839_215640840insAAAACAAAAAAAAAAAAAAAAAAAAAAAACAAAA	GRCh38
NC_000001.10:g.215814181_215814182insAAAACAAAAAAAAAAAAAAAAAAAAAAAACAAAA , CM000663.1:g.215814181_215814182insAAAACAAAAAAAAAAAAAAAAAAAAAAAACAAAA	GRCh37
NC_000001.9:g.213880804_213880805insAAAACAAAAAAAAAAAAAAAAAAAAAAAACAAAA	NCBI36
NG_009497.1:g.787557_787558insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGTTTT
NG_009497.2:g.787609_787610insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-106_14792-105insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGTTTT MANE Select	ENSP00000305941.3:n.14792-106_14792-105insTTTTGTTTTTTTTTTTTTT...
ENST00000674083.1:c.14792-106_14792-105insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGTTTT	ENSP00000501296.1:n.14792-106_14792-105insTTTTGTTTTTTTTTTTTTT...
ENST00000307340.7:c.14792-106_14792-105insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGTTTT	ENSP00000305941.3:n.14792-106_14792-105insTTTTGTTTTTTTTTTTTTT...
NM_206933.2:c.14792-106_14792-105insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGTTTT	NP_996816.2:n.14792-106_14792-105insTTTTGTTTTTTTTTTTTTTTTTTTT...
NM_206933.3:c.14792-106_14792-105insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGTTTT	NP_996816.2:n.14792-106_14792-105insTTTTGTTTTTTTTTTTTTTTTTTTT...
NM_206933.4:c.14792-106_14792-105insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGTTTT MANE Select	NP_996816.3:n.14792-106_14792-105insTTTTGTTTTTTTTTTTTTTTTTTTT...