Canonical Allele Identifier: CA1220455747
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867238_215867241delinsCTTT , CM000663.2:g.215867238_215867241delinsCTTT GRCh38
NC_000001.10:g.216040580_216040583delinsCTTT , CM000663.1:g.216040580_216040583delinsCTTT GRCh37
NC_000001.9:g.214107203_214107206delinsCTTT NCBI36
NG_009497.1:g.561156_561159delinsAAAG
NG_009497.2:g.561208_561211delinsAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-71_8682-68delinsAAAG MANE Select ENSP00000305941.3:n.8682-71_8682-68delinsAAAG
ENST00000674083.1:c.8682-71_8682-68delinsAAAG ENSP00000501296.1:n.8682-71_8682-68delinsAAAG
ENST00000307340.7:c.8682-71_8682-68delinsAAAG ENSP00000305941.3:n.8682-71_8682-68delinsAAAG
NM_206933.2:c.8682-71_8682-68delinsAAAG NP_996816.2:n.8682-71_8682-68delinsAAAG
NM_206933.3:c.8682-71_8682-68delinsAAAG NP_996816.2:n.8682-71_8682-68delinsAAAG
NM_206933.4:c.8682-71_8682-68delinsAAAG MANE Select NP_996816.3:n.8682-71_8682-68delinsAAAG