Canonical Allele Identifier: CA1220598748

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200020_216200054delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG , CM000663.2:g.216200020_216200054delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG	GRCh38
NC_000001.10:g.216373362_216373396delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG , CM000663.1:g.216373362_216373396delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG	GRCh37
NC_000001.9:g.214439985_214440019delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG	NCBI36
NG_009497.1:g.228343_228377delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA
NG_009497.2:g.228395_228429delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3384_3418delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA (USH2A) MANE Select	ENSP00000305941.3:p.Thr1128=
ENST00000674083.1:c.3384_3418delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA (USH2A)	ENSP00000501296.1:p.Thr1128=
ENST00000307340.7:c.3384_3418delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA (USH2A)	ENSP00000305941.3:p.Thr1128=
ENST00000366942.3:c.3384_3418delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA (USH2A)	ENSP00000355909.3:p.Thr1128=
NM_007123.5:c.3384_3418delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA (USH2A)	NP_009054.5:p.Thr1128=
NM_206933.2:c.3384_3418delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA (USH2A)	NP_996816.2:p.Thr1128=
XR_922595.1:n.355-4010_355-3976delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG (USH2A-AS1)
XR_922596.1:n.354+4095_354+4129delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG (USH2A-AS1)
XR_922597.1:n.354+4095_354+4129delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG (USH2A-AS1)
XR_922598.1:n.485-4010_485-3976delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG (USH2A-AS1)
XR_922595.3:n.1077-4010_1077-3976delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG (USH2A-AS1)
XR_922596.3:n.1076+4095_1076+4129delinsTGACAGCTACACTCCTTGTTGAACCATGCACATTG (USH2A-AS1)
NM_206933.3:c.3384_3418delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA (USH2A)	NP_996816.2:p.Thr1128=
NM_007123.6:c.3384_3418delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA (USH2A)	NP_009054.6:p.Thr1128=
NM_206933.4:c.3384_3418delinsCAATGTGCATGGTTCAACAAGGAGTGTAGCTGTCA (USH2A) MANE Select	NP_996816.3:p.Thr1128=