Canonical Allele Identifier: CA2518132472

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215781786_215781787insGTTTCTATTTAA , CM000663.2:g.215781786_215781787insGTTTCTATTTAA	GRCh38
NC_000001.10:g.215955128_215955129insGTTTCTATTTAA , CM000663.1:g.215955128_215955129insGTTTCTATTTAA	GRCh37
NC_000001.9:g.214021751_214021752insGTTTCTATTTAA	NCBI36
NG_009497.1:g.646612_646613insAAATAGAAACTT
NG_009497.2:g.646664_646665insAAATAGAAACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10740+257_10740+258insAAATAGAAACTT MANE Select	ENSP00000305941.3:n.10740+257_10740+258insAAATAGAAACTT
ENST00000674083.1:c.10740+257_10740+258insAAATAGAAACTT	ENSP00000501296.1:n.10740+257_10740+258insAAATAGAAACTT
ENST00000307340.7:c.10740+257_10740+258insAAATAGAAACTT	ENSP00000305941.3:n.10740+257_10740+258insAAATAGAAACTT
NM_206933.2:c.10740+257_10740+258insAAATAGAAACTT	NP_996816.2:n.10740+257_10740+258insAAATAGAAACTT
NM_206933.3:c.10740+257_10740+258insAAATAGAAACTT	NP_996816.2:n.10740+257_10740+258insAAATAGAAACTT
NM_206933.4:c.10740+257_10740+258insAAATAGAAACTT MANE Select	NP_996816.3:n.10740+257_10740+258insAAATAGAAACTT