Canonical Allele Identifier: CA1012185158

Gene: USH2A

Linked Data

• gnomAD v3: 1-215640844-C-CAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAACAAAAAAAAAAAAA
• gnomAD v4: 1-215640844-C-CAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAACAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640861_215640862insGAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000663.2:g.215640861_215640862insGAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000001.10:g.215814203_215814204insGAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000663.1:g.215814203_215814204insGAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000001.9:g.213880826_213880827insGAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_009497.1:g.787552_787553insTTTTTTTTTTTTTGTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT
NG_009497.2:g.787604_787605insTTTTTTTTTTTTTGTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT

Transcript Alleles

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