Canonical Allele Identifier: CA2650511955

Gene: USH2A USH2A-AS1

Linked Data

• gnomAD v4: 1-216199602-G-GTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199602_216199603insTTC , CM000663.2:g.216199602_216199603insTTC	GRCh38
NC_000001.10:g.216372944_216372945insTTC , CM000663.1:g.216372944_216372945insTTC	GRCh37
NC_000001.9:g.214439567_214439568insTTC	NCBI36
NG_009497.1:g.228794_228795insGAA
NG_009497.2:g.228846_228847insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3811+24_3811+25insGAA (USH2A) MANE Select	ENSP00000305941.3:n.3811+24_3811+25insGAA
ENST00000674083.1:c.3811+24_3811+25insGAA (USH2A)	ENSP00000501296.1:n.3811+24_3811+25insGAA
ENST00000307340.7:c.3811+24_3811+25insGAA (USH2A)	ENSP00000305941.3:n.3811+24_3811+25insGAA
ENST00000366942.3:c.3811+24_3811+25insGAA (USH2A)	ENSP00000355909.3:n.3811+24_3811+25insGAA
NM_007123.5:c.3811+24_3811+25insGAA (USH2A)	NP_009054.5:n.3811+24_3811+25insGAA
NM_206933.2:c.3811+24_3811+25insGAA (USH2A)	NP_996816.2:n.3811+24_3811+25insGAA
XR_922595.1:n.354+3677_354+3678insTTC (USH2A-AS1)
XR_922596.1:n.354+3677_354+3678insTTC (USH2A-AS1)
XR_922597.1:n.354+3677_354+3678insTTC (USH2A-AS1)
XR_922598.1:n.484+3677_484+3678insTTC (USH2A-AS1)
XR_922595.3:n.1076+3677_1076+3678insTTC (USH2A-AS1)
XR_922596.3:n.1076+3677_1076+3678insTTC (USH2A-AS1)
NM_206933.3:c.3811+24_3811+25insGAA (USH2A)	NP_996816.2:n.3811+24_3811+25insGAA
NM_007123.6:c.3811+24_3811+25insGAA (USH2A)	NP_009054.6:n.3811+24_3811+25insGAA
NM_206933.4:c.3811+24_3811+25insGAA (USH2A) MANE Select	NP_996816.3:n.3811+24_3811+25insGAA