Canonical Allele Identifier: CA1139656543

Gene: USH2A

Linked Data

• ClinVar Variation Id: 938237
• ClinVar RCV Id: RCV001207422

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215673953_215675415del , CM000663.2:g.215673953_215675415del	GRCh38
NC_000001.10:g.215847295_215848757del , CM000663.1:g.215847295_215848757del	GRCh37
NC_000001.9:g.213913918_213915380del	NCBI36
NG_009497.2:g.753035_754497del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.12497_13811+148del
ENST00000674083.1:c.12497_13811+148del
ENST00000307340.7:c.12497_13811+148del
NM_206933.4:c.12497_13811+148del