Canonical Allele Identifier: CA1220426438
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799289_215799290delinsGT , CM000663.2:g.215799289_215799290delinsGT GRCh38
NC_000001.10:g.215972631_215972632delinsGT , CM000663.1:g.215972631_215972632delinsGT GRCh37
NC_000001.9:g.214039254_214039255delinsGT NCBI36
NG_009497.1:g.629107_629108delinsAC
NG_009497.2:g.629159_629160delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9740-165_9740-164delinsAC MANE Select ENSP00000305941.3:n.9740-165_9740-164delinsAC
ENST00000674083.1:c.9740-165_9740-164delinsAC ENSP00000501296.1:n.9740-165_9740-164delinsAC
ENST00000307340.7:c.9740-165_9740-164delinsAC ENSP00000305941.3:n.9740-165_9740-164delinsAC
NM_206933.2:c.9740-165_9740-164delinsAC NP_996816.2:n.9740-165_9740-164delinsAC
NM_206933.3:c.9740-165_9740-164delinsAC NP_996816.2:n.9740-165_9740-164delinsAC
NM_206933.4:c.9740-165_9740-164delinsAC MANE Select NP_996816.3:n.9740-165_9740-164delinsAC