Canonical Allele Identifier: CA1220413118

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215767069_215767070delinsGA , CM000663.2:g.215767069_215767070delinsGA	GRCh38
NC_000001.10:g.215940411_215940412delinsGA , CM000663.1:g.215940411_215940412delinsGA	GRCh37
NC_000001.9:g.214007034_214007035delinsGA	NCBI36
NG_009497.1:g.661327_661328delinsTC
NG_009497.2:g.661379_661380delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10940-282_10940-281delinsTC MANE Select	ENSP00000305941.3:n.10940-282_10940-281delinsTC
ENST00000674083.1:c.10940-282_10940-281delinsTC	ENSP00000501296.1:n.10940-282_10940-281delinsTC
ENST00000307340.7:c.10940-282_10940-281delinsTC	ENSP00000305941.3:n.10940-282_10940-281delinsTC
NM_206933.2:c.10940-282_10940-281delinsTC	NP_996816.2:n.10940-282_10940-281delinsTC
NM_206933.3:c.10940-282_10940-281delinsTC	NP_996816.2:n.10940-282_10940-281delinsTC
NM_206933.4:c.10940-282_10940-281delinsTC MANE Select	NP_996816.3:n.10940-282_10940-281delinsTC