Canonical Allele Identifier: CA2650499629

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640845-A-AAAAAAAAAAAAAAAAAAAAAACAAACCAAACCAAACCAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640862_215640863insAAAACAAACCAAACCAAACCAAACAAAAAAAAAAAAAAAAA , CM000663.2:g.215640862_215640863insAAAACAAACCAAACCAAACCAAACAAAAAAAAAAAAAAAAA	GRCh38
NC_000001.10:g.215814204_215814205insAAAACAAACCAAACCAAACCAAACAAAAAAAAAAAAAAAAA , CM000663.1:g.215814204_215814205insAAAACAAACCAAACCAAACCAAACAAAAAAAAAAAAAAAAA	GRCh37
NC_000001.9:g.213880827_213880828insAAAACAAACCAAACCAAACCAAACAAAAAAAAAAAAAAAAA	NCBI36
NG_009497.1:g.787551_787552insGTTTGGTTTGGTTTGGTTTGTTTTTTTTTTTTTTTTTTTTT
NG_009497.2:g.787603_787604insGTTTGGTTTGGTTTGGTTTGTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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