Canonical Allele Identifier: CA1220455756
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867258_215867261delinsCAGG , CM000663.2:g.215867258_215867261delinsCAGG GRCh38
NC_000001.10:g.216040600_216040603delinsCAGG , CM000663.1:g.216040600_216040603delinsCAGG GRCh37
NC_000001.9:g.214107223_214107226delinsCAGG NCBI36
NG_009497.1:g.561136_561139delinsCCTG
NG_009497.2:g.561188_561191delinsCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-91_8682-88delinsCCTG MANE Select ENSP00000305941.3:n.8682-91_8682-88delinsCCTG
ENST00000674083.1:c.8682-91_8682-88delinsCCTG ENSP00000501296.1:n.8682-91_8682-88delinsCCTG
ENST00000307340.7:c.8682-91_8682-88delinsCCTG ENSP00000305941.3:n.8682-91_8682-88delinsCCTG
NM_206933.2:c.8682-91_8682-88delinsCCTG NP_996816.2:n.8682-91_8682-88delinsCCTG
NM_206933.3:c.8682-91_8682-88delinsCCTG NP_996816.2:n.8682-91_8682-88delinsCCTG
NM_206933.4:c.8682-91_8682-88delinsCCTG MANE Select NP_996816.3:n.8682-91_8682-88delinsCCTG