Canonical Allele Identifier: CA1220434437

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817326_215817328delinsCAT , CM000663.2:g.215817326_215817328delinsCAT	GRCh38
NC_000001.10:g.215990668_215990670delinsCAT , CM000663.1:g.215990668_215990670delinsCAT	GRCh37
NC_000001.9:g.214057291_214057293delinsCAT	NCBI36
NG_009497.1:g.611069_611071delinsATG
NG_009497.2:g.611121_611123delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-133_9372-131delinsATG MANE Select	ENSP00000305941.3:n.9372-133_9372-131delinsATG
ENST00000674083.1:c.9372-133_9372-131delinsATG	ENSP00000501296.1:n.9372-133_9372-131delinsATG
ENST00000307340.7:c.9372-133_9372-131delinsATG	ENSP00000305941.3:n.9372-133_9372-131delinsATG
NM_206933.2:c.9372-133_9372-131delinsATG	NP_996816.2:n.9372-133_9372-131delinsATG
NM_206933.3:c.9372-133_9372-131delinsATG	NP_996816.2:n.9372-133_9372-131delinsATG
NM_206933.4:c.9372-133_9372-131delinsATG MANE Select	NP_996816.3:n.9372-133_9372-131delinsATG