Canonical Allele Identifier: CA2650499632

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640845-A-AAAAAAAAAAAAAAAAAAGAAAAACACAACAAAACCAACCAAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640867_215640868insACACAACAAAACCAACCAAAACAAAAAAAAAAAAAAAAAGAAAA , CM000663.2:g.215640867_215640868insACACAACAAAACCAACCAAAACAAAAAAAAAAAAAAAAAGAAAA	GRCh38
NC_000001.10:g.215814209_215814210insACACAACAAAACCAACCAAAACAAAAAAAAAAAAAAAAAGAAAA , CM000663.1:g.215814209_215814210insACACAACAAAACCAACCAAAACAAAAAAAAAAAAAAAAAGAAAA	GRCh37
NC_000001.9:g.213880832_213880833insACACAACAAAACCAACCAAAACAAAAAAAAAAAAAAAAAGAAAA	NCBI36
NG_009497.1:g.787551_787552insGTTTTGGTTGGTTTTGTTGTGTTTTTCTTTTTTTTTTTTTTTTT
NG_009497.2:g.787603_787604insGTTTTGGTTGGTTTTGTTGTGTTTTTCTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-112_14792-111insGTTTTGGTTGGTTTTGTTGTGTTTTTCTTTTTTTTTTTTTTTTT MANE Select	ENSP00000305941.3:n.14792-112_14792-111insGTTTTGGTTGGTTTTGTTG...
ENST00000674083.1:c.14792-112_14792-111insGTTTTGGTTGGTTTTGTTGTGTTTTTCTTTTTTTTTTTTTTTTT	ENSP00000501296.1:n.14792-112_14792-111insGTTTTGGTTGGTTTTGTTG...
ENST00000307340.7:c.14792-112_14792-111insGTTTTGGTTGGTTTTGTTGTGTTTTTCTTTTTTTTTTTTTTTTT	ENSP00000305941.3:n.14792-112_14792-111insGTTTTGGTTGGTTTTGTTG...
NM_206933.2:c.14792-112_14792-111insGTTTTGGTTGGTTTTGTTGTGTTTTTCTTTTTTTTTTTTTTTTT	NP_996816.2:n.14792-112_14792-111insGTTTTGGTTGGTTTTGTTGTGTTTT...
NM_206933.3:c.14792-112_14792-111insGTTTTGGTTGGTTTTGTTGTGTTTTTCTTTTTTTTTTTTTTTTT	NP_996816.2:n.14792-112_14792-111insGTTTTGGTTGGTTTTGTTGTGTTTT...
NM_206933.4:c.14792-112_14792-111insGTTTTGGTTGGTTTTGTTGTGTTTTTCTTTTTTTTTTTTTTTTT MANE Select	NP_996816.3:n.14792-112_14792-111insGTTTTGGTTGGTTTTGTTGTGTTTT...