Canonical Allele Identifier: CA1220396618
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728457_215728460delinsCATT , CM000663.2:g.215728457_215728460delinsCATT GRCh38
NC_000001.10:g.215901799_215901802delinsCATT , CM000663.1:g.215901799_215901802delinsCATT GRCh37
NC_000001.9:g.213968422_213968425delinsCATT NCBI36
NG_009497.1:g.699937_699940delinsAATG
NG_009497.2:g.699989_699992delinsAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-76_11712-73delinsAATG MANE Select ENSP00000305941.3:n.11712-76_11712-73delinsAATG
ENST00000674083.1:c.11712-76_11712-73delinsAATG ENSP00000501296.1:n.11712-76_11712-73delinsAATG
ENST00000307340.7:c.11712-76_11712-73delinsAATG ENSP00000305941.3:n.11712-76_11712-73delinsAATG
NM_206933.2:c.11712-76_11712-73delinsAATG NP_996816.2:n.11712-76_11712-73delinsAATG
NM_206933.3:c.11712-76_11712-73delinsAATG NP_996816.2:n.11712-76_11712-73delinsAATG
NM_206933.4:c.11712-76_11712-73delinsAATG MANE Select NP_996816.3:n.11712-76_11712-73delinsAATG