Canonical Allele Identifier: CA2650509010

Gene: USH2A

Linked Data

• gnomAD v4: 1-216070438-A-AGGTGACCTGGGATGAACCTGTTGTCAGAGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070438_216070439insGGTGACCTGGGATGAACCTGTTGTCAGAGGTG , CM000663.2:g.216070438_216070439insGGTGACCTGGGATGAACCTGTTGTCAGAGGTG	GRCh38
NC_000001.10:g.216243780_216243781insGGTGACCTGGGATGAACCTGTTGTCAGAGGTG , CM000663.1:g.216243780_216243781insGGTGACCTGGGATGAACCTGTTGTCAGAGGTG	GRCh37
NC_000001.9:g.214310403_214310404insGGTGACCTGGGATGAACCTGTTGTCAGAGGTG	NCBI36
NG_009497.1:g.357958_357959insCACCTCTGACAACAGGTTCATCCCAGGTCACC
NG_009497.2:g.358010_358011insCACCTCTGACAACAGGTTCATCCCAGGTCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-147_5858-146insCACCTCTGACAACAGGTTCATCCCAGGTCACC MANE Select	ENSP00000305941.3:n.5858-147_5858-146insCACCTCTGACAACAGGTTCAT...
ENST00000674083.1:c.5858-147_5858-146insCACCTCTGACAACAGGTTCATCCCAGGTCACC	ENSP00000501296.1:n.5858-147_5858-146insCACCTCTGACAACAGGTTCAT...
ENST00000307340.7:c.5858-147_5858-146insCACCTCTGACAACAGGTTCATCCCAGGTCACC	ENSP00000305941.3:n.5858-147_5858-146insCACCTCTGACAACAGGTTCAT...
NM_206933.2:c.5858-147_5858-146insCACCTCTGACAACAGGTTCATCCCAGGTCACC	NP_996816.2:n.5858-147_5858-146insCACCTCTGACAACAGGTTCATCCCAGG...
NM_206933.3:c.5858-147_5858-146insCACCTCTGACAACAGGTTCATCCCAGGTCACC	NP_996816.2:n.5858-147_5858-146insCACCTCTGACAACAGGTTCATCCCAGG...
NM_206933.4:c.5858-147_5858-146insCACCTCTGACAACAGGTTCATCCCAGGTCACC MANE Select	NP_996816.3:n.5858-147_5858-146insCACCTCTGACAACAGGTTCATCCCAGG...