Canonical Allele Identifier: CA658822634

Gene: USH2A

Linked Data

• ClinVar Variation Id: 554540
• ClinVar RCV Id: RCV000670198
• dbSNP Id: rs1553249452
• MyVariant Identifiers: chr1:g.215640611_215640632del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640614_215640635del , CM000663.2:g.215640614_215640635del	GRCh38
NC_000001.10:g.215813956_215813977del , CM000663.1:g.215813956_215813977del	GRCh37
NC_000001.9:g.213880579_213880600del	NCBI36
NG_009497.1:g.787765_787786del
NG_009497.2:g.787817_787838del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.14894_14915del MANE Select	ENSP00000305941.3:p.Val4965AlafsTer?
ENST00000674083.1:c.14894_14915del	ENSP00000501296.1:p.Val4965AlafsTer?
ENST00000307340.7:c.14894_14915del	ENSP00000305941.3:p.Val4965AlafsTer?
NM_206933.2:c.14894_14915del	NP_996816.2:p.Val4965AlafsTer?
NM_206933.3:c.14894_14915del	NP_996816.2:p.Val4965AlafsTer?
NM_206933.4:c.14894_14915del MANE Select	NP_996816.3:p.Val4965AlafsTer?