Canonical Allele Identifier: CA1140192912

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817289_215817301delinsATATATATATATA , CM000663.2:g.215817289_215817301delinsATATATATATATA	GRCh38
NC_000001.10:g.215990631_215990643delinsATATATATATATA , CM000663.1:g.215990631_215990643delinsATATATATATATA	GRCh37
NC_000001.9:g.214057254_214057266delinsATATATATATATA	NCBI36
NG_009497.1:g.611096_611108delinsTATATATATATAT
NG_009497.2:g.611148_611160delinsTATATATATATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-106_9372-94delinsTATATATATATAT MANE Select	ENSP00000305941.3:n.9372-106_9372-94delinsTATATATATATAT
ENST00000674083.1:c.9372-106_9372-94delinsTATATATATATAT	ENSP00000501296.1:n.9372-106_9372-94delinsTATATATATATAT
ENST00000307340.7:c.9372-106_9372-94delinsTATATATATATAT	ENSP00000305941.3:n.9372-106_9372-94delinsTATATATATATAT
NM_206933.2:c.9372-106_9372-94delinsTATATATATATAT	NP_996816.2:n.9372-106_9372-94delinsTATATATATATAT
NM_206933.3:c.9372-106_9372-94delinsTATATATATATAT	NP_996816.2:n.9372-106_9372-94delinsTATATATATATAT
NM_206933.4:c.9372-106_9372-94delinsTATATATATATAT MANE Select	NP_996816.3:n.9372-106_9372-94delinsTATATATATATAT