Canonical Allele Identifier: CA913072774

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.215990379_215990382del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817037_215817040del , CM000663.2:g.215817037_215817040del	GRCh38
NC_000001.10:g.215990379_215990382del , CM000663.1:g.215990379_215990382del	GRCh37
NC_000001.9:g.214057002_214057005del	NCBI36
NG_009497.1:g.611357_611360del
NG_009497.2:g.611409_611412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9527_9530del MANE Select	ENSP00000305941.3:p.Pro3176HisfsTer?
ENST00000674083.1:c.9527_9530del	ENSP00000501296.1:p.Pro3176HisfsTer?
ENST00000307340.7:c.9527_9530del	ENSP00000305941.3:p.Pro3176HisfsTer?
NM_206933.2:c.9527_9530del	NP_996816.2:p.Pro3176HisfsTer?
NM_206933.3:c.9527_9530del	NP_996816.2:p.Pro3176HisfsTer?
NM_206933.4:c.9527_9530del MANE Select	NP_996816.3:p.Pro3176HisfsTer?