Canonical Allele Identifier: CA1220414267

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779771_215779772delinsTG , CM000663.2:g.215779771_215779772delinsTG	GRCh38
NC_000001.10:g.215953113_215953114delinsTG , CM000663.1:g.215953113_215953114delinsTG	GRCh37
NC_000001.9:g.214019736_214019737delinsTG	NCBI36
NG_009497.1:g.648625_648626delinsCA
NG_009497.2:g.648677_648678delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+71_10939+72delinsCA MANE Select	ENSP00000305941.3:n.10939+71_10939+72delinsCA
ENST00000674083.1:c.10939+71_10939+72delinsCA	ENSP00000501296.1:n.10939+71_10939+72delinsCA
ENST00000307340.7:c.10939+71_10939+72delinsCA	ENSP00000305941.3:n.10939+71_10939+72delinsCA
NM_206933.2:c.10939+71_10939+72delinsCA	NP_996816.2:n.10939+71_10939+72delinsCA
NM_206933.3:c.10939+71_10939+72delinsCA	NP_996816.2:n.10939+71_10939+72delinsCA
NM_206933.4:c.10939+71_10939+72delinsCA MANE Select	NP_996816.3:n.10939+71_10939+72delinsCA