Canonical Allele Identifier: CA2747717547
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671406_215671407del , CM000663.2:g.215671406_215671407del GRCh38
NC_000001.10:g.215844748_215844749del , CM000663.1:g.215844748_215844749del GRCh37
NC_000001.9:g.213911371_213911372del NCBI36
NG_009497.1:g.756990_756991del
NG_009497.2:g.757042_757043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13812-114_13812-113del MANE Select ENSP00000305941.3:n.13812-114_13812-113del
ENST00000674083.1:c.13812-114_13812-113del ENSP00000501296.1:n.13812-114_13812-113del
ENST00000307340.7:c.13812-114_13812-113del ENSP00000305941.3:n.13812-114_13812-113del
NM_206933.2:c.13812-114_13812-113del NP_996816.2:n.13812-114_13812-113del
NM_206933.3:c.13812-114_13812-113del NP_996816.2:n.13812-114_13812-113del
NM_206933.4:c.13812-114_13812-113del MANE Select NP_996816.3:n.13812-114_13812-113del