Canonical Allele Identifier: CA2747717673
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675615_215675620del , CM000663.2:g.215675615_215675620del GRCh38
NC_000001.10:g.215848957_215848962del , CM000663.1:g.215848957_215848962del GRCh37
NC_000001.9:g.213915580_213915585del NCBI36
NG_009497.1:g.752777_752782del
NG_009497.2:g.752829_752834del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-4_12296del
ENST00000674083.1:c.12295-4_12296del
ENST00000307340.7:c.12295-4_12296del
NM_206933.2:c.12295-4_12296del
NM_206933.3:c.12295-4_12296del
NM_206933.4:c.12295-4_12296del