Canonical Allele Identifier: CA1220434278

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215816967_215816968delinsTG , CM000663.2:g.215816967_215816968delinsTG	GRCh38
NC_000001.10:g.215990309_215990310delinsTG , CM000663.1:g.215990309_215990310delinsTG	GRCh37
NC_000001.9:g.214056932_214056933delinsTG	NCBI36
NG_009497.1:g.611429_611430delinsCA
NG_009497.2:g.611481_611482delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9570+29_9570+30delinsCA MANE Select	ENSP00000305941.3:n.9570+29_9570+30delinsCA
ENST00000674083.1:c.9570+29_9570+30delinsCA	ENSP00000501296.1:n.9570+29_9570+30delinsCA
ENST00000307340.7:c.9570+29_9570+30delinsCA	ENSP00000305941.3:n.9570+29_9570+30delinsCA
NM_206933.2:c.9570+29_9570+30delinsCA	NP_996816.2:n.9570+29_9570+30delinsCA
NM_206933.3:c.9570+29_9570+30delinsCA	NP_996816.2:n.9570+29_9570+30delinsCA
NM_206933.4:c.9570+29_9570+30delinsCA MANE Select	NP_996816.3:n.9570+29_9570+30delinsCA