Canonical Allele Identifier: CA2747724387
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867250_215867251insGT , CM000663.2:g.215867250_215867251insGT GRCh38
NC_000001.10:g.216040592_216040593insGT , CM000663.1:g.216040592_216040593insGT GRCh37
NC_000001.9:g.214107215_214107216insGT NCBI36
NG_009497.1:g.561146_561147insAC
NG_009497.2:g.561198_561199insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-81_8682-80insAC MANE Select ENSP00000305941.3:n.8682-81_8682-80insAC
ENST00000674083.1:c.8682-81_8682-80insAC ENSP00000501296.1:n.8682-81_8682-80insAC
ENST00000307340.7:c.8682-81_8682-80insAC ENSP00000305941.3:n.8682-81_8682-80insAC
NM_206933.2:c.8682-81_8682-80insAC NP_996816.2:n.8682-81_8682-80insAC
NM_206933.3:c.8682-81_8682-80insAC NP_996816.2:n.8682-81_8682-80insAC
NM_206933.4:c.8682-81_8682-80insAC MANE Select NP_996816.3:n.8682-81_8682-80insAC