Canonical Allele Identifier: CA2650499677

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640860-A-AAAAAAAAACAAAACCAAACAAACCCAAAAAAAAAAAAAAAAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640862_215640863insAAAAAACAAAACCAAACAAACCCAAAAAAAAAAAAAAAAAAATAA , CM000663.2:g.215640862_215640863insAAAAAACAAAACCAAACAAACCCAAAAAAAAAAAAAAAAAAATAA	GRCh38
NC_000001.10:g.215814204_215814205insAAAAAACAAAACCAAACAAACCCAAAAAAAAAAAAAAAAAAATAA , CM000663.1:g.215814204_215814205insAAAAAACAAAACCAAACAAACCCAAAAAAAAAAAAAAAAAAATAA	GRCh37
NC_000001.9:g.213880827_213880828insAAAAAACAAAACCAAACAAACCCAAAAAAAAAAAAAAAAAAATAA	NCBI36
NG_009497.1:g.787536_787537insATTTTTTTTTTTTTTTTTTTGGGTTTGTTTGGTTTTGTTTTTTTT
NG_009497.2:g.787588_787589insATTTTTTTTTTTTTTTTTTTGGGTTTGTTTGGTTTTGTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-127_14792-126insATTTTTTTTTTTTTTTTTTTGGGTTTGTTTGGTTTTGTTTTTTTT MANE Select	ENSP00000305941.3:n.14792-127_14792-126insATTTTTTTTTTTTTTTTTT...
ENST00000674083.1:c.14792-127_14792-126insATTTTTTTTTTTTTTTTTTTGGGTTTGTTTGGTTTTGTTTTTTTT	ENSP00000501296.1:n.14792-127_14792-126insATTTTTTTTTTTTTTTTTT...
ENST00000307340.7:c.14792-127_14792-126insATTTTTTTTTTTTTTTTTTTGGGTTTGTTTGGTTTTGTTTTTTTT	ENSP00000305941.3:n.14792-127_14792-126insATTTTTTTTTTTTTTTTTT...
NM_206933.2:c.14792-127_14792-126insATTTTTTTTTTTTTTTTTTTGGGTTTGTTTGGTTTTGTTTTTTTT	NP_996816.2:n.14792-127_14792-126insATTTTTTTTTTTTTTTTTTTGGGTT...
NM_206933.3:c.14792-127_14792-126insATTTTTTTTTTTTTTTTTTTGGGTTTGTTTGGTTTTGTTTTTTTT	NP_996816.2:n.14792-127_14792-126insATTTTTTTTTTTTTTTTTTTGGGTT...
NM_206933.4:c.14792-127_14792-126insATTTTTTTTTTTTTTTTTTTGGGTTTGTTTGGTTTTGTTTTTTTT MANE Select	NP_996816.3:n.14792-127_14792-126insATTTTTTTTTTTTTTTTTTTGGGTT...