Canonical Allele Identifier: CA2650499664

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640850-A-AAAAAAAAAAAAAAAAAACAAACCAAACCAACCCAAAAAAAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640862_215640863insAAAAACAAACCAAACCAACCCAAAAAAAAACAAAAAAAAAAAA , CM000663.2:g.215640862_215640863insAAAAACAAACCAAACCAACCCAAAAAAAAACAAAAAAAAAAAA	GRCh38
NC_000001.10:g.215814204_215814205insAAAAACAAACCAAACCAACCCAAAAAAAAACAAAAAAAAAAAA , CM000663.1:g.215814204_215814205insAAAAACAAACCAAACCAACCCAAAAAAAAACAAAAAAAAAAAA	GRCh37
NC_000001.9:g.213880827_213880828insAAAAACAAACCAAACCAACCCAAAAAAAAACAAAAAAAAAAAA	NCBI36
NG_009497.1:g.787546_787547insGTTTTTTTTTGGGTTGGTTTGGTTTGTTTTTTTTTTTTTTTTT
NG_009497.2:g.787598_787599insGTTTTTTTTTGGGTTGGTTTGGTTTGTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-117_14792-116insGTTTTTTTTTGGGTTGGTTTGGTTTGTTTTTTTTTTTTTTTTT MANE Select	ENSP00000305941.3:n.14792-117_14792-116insGTTTTTTTTTGGGTTGGTT...
ENST00000674083.1:c.14792-117_14792-116insGTTTTTTTTTGGGTTGGTTTGGTTTGTTTTTTTTTTTTTTTTT	ENSP00000501296.1:n.14792-117_14792-116insGTTTTTTTTTGGGTTGGTT...
ENST00000307340.7:c.14792-117_14792-116insGTTTTTTTTTGGGTTGGTTTGGTTTGTTTTTTTTTTTTTTTTT	ENSP00000305941.3:n.14792-117_14792-116insGTTTTTTTTTGGGTTGGTT...
NM_206933.2:c.14792-117_14792-116insGTTTTTTTTTGGGTTGGTTTGGTTTGTTTTTTTTTTTTTTTTT	NP_996816.2:n.14792-117_14792-116insGTTTTTTTTTGGGTTGGTTTGGTTT...
NM_206933.3:c.14792-117_14792-116insGTTTTTTTTTGGGTTGGTTTGGTTTGTTTTTTTTTTTTTTTTT	NP_996816.2:n.14792-117_14792-116insGTTTTTTTTTGGGTTGGTTTGGTTT...
NM_206933.4:c.14792-117_14792-116insGTTTTTTTTTGGGTTGGTTTGGTTTGTTTTTTTTTTTTTTTTT MANE Select	NP_996816.3:n.14792-117_14792-116insGTTTTTTTTTGGGTTGGTTTGGTTT...