Canonical Allele Identifier: CA2747720383
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766851_215766852insACA , CM000663.2:g.215766851_215766852insACA GRCh38
NC_000001.10:g.215940193_215940194insACA , CM000663.1:g.215940193_215940194insACA GRCh37
NC_000001.9:g.214006816_214006817insACA NCBI36
NG_009497.1:g.661545_661546insTGT
NG_009497.2:g.661597_661598insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10940-64_10940-63insTGT MANE Select ENSP00000305941.3:n.10940-64_10940-63insTGT
ENST00000674083.1:c.10940-64_10940-63insTGT ENSP00000501296.1:n.10940-64_10940-63insTGT
ENST00000307340.7:c.10940-64_10940-63insTGT ENSP00000305941.3:n.10940-64_10940-63insTGT
NM_206933.2:c.10940-64_10940-63insTGT NP_996816.2:n.10940-64_10940-63insTGT
NM_206933.3:c.10940-64_10940-63insTGT NP_996816.2:n.10940-64_10940-63insTGT
NM_206933.4:c.10940-64_10940-63insTGT MANE Select NP_996816.3:n.10940-64_10940-63insTGT