Canonical Allele Identifier: CA2650499613

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640844-C-CAAAAAAAAAAAAAAAAAAAAAAAACCAAACCAATCCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640862_215640863insAAAAAACCAAACCAATCCAAAAAAAAAAAAAAAAAAAAA , CM000663.2:g.215640862_215640863insAAAAAACCAAACCAATCCAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000001.10:g.215814204_215814205insAAAAAACCAAACCAATCCAAAAAAAAAAAAAAAAAAAAA , CM000663.1:g.215814204_215814205insAAAAAACCAAACCAATCCAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000001.9:g.213880827_213880828insAAAAAACCAAACCAATCCAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_009497.1:g.787552_787553insTTTGGATTGGTTTGGTTTTTTTTTTTTTTTTTTTTTTTT
NG_009497.2:g.787604_787605insTTTGGATTGGTTTGGTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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