Canonical Allele Identifier: CA2747734328

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200114_216200115insAGA , CM000663.2:g.216200114_216200115insAGA	GRCh38
NC_000001.10:g.216373456_216373457insAGA , CM000663.1:g.216373456_216373457insAGA	GRCh37
NC_000001.9:g.214440079_214440080insAGA	NCBI36
NG_009497.1:g.228282_228283insTCT
NG_009497.2:g.228334_228335insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3323_3324insTCT (USH2A) MANE Select	ENSP00000305941.3:p.Gln1108delinsHisLeu
ENST00000674083.1:c.3323_3324insTCT (USH2A)	ENSP00000501296.1:p.Gln1108delinsHisLeu
ENST00000307340.7:c.3323_3324insTCT (USH2A)	ENSP00000305941.3:p.Gln1108delinsHisLeu
ENST00000366942.3:c.3323_3324insTCT (USH2A)	ENSP00000355909.3:p.Gln1108delinsHisLeu
NM_007123.5:c.3323_3324insTCT (USH2A)	NP_009054.5:p.Gln1108delinsHisLeu
NM_206933.2:c.3323_3324insTCT (USH2A)	NP_996816.2:p.Gln1108delinsHisLeu
XR_922595.1:n.355-3916_355-3915insAGA (USH2A-AS1)
XR_922596.1:n.354+4189_354+4190insAGA (USH2A-AS1)
XR_922597.1:n.354+4189_354+4190insAGA (USH2A-AS1)
XR_922598.1:n.485-3916_485-3915insAGA (USH2A-AS1)
XR_922595.3:n.1077-3916_1077-3915insAGA (USH2A-AS1)
XR_922596.3:n.1076+4189_1076+4190insAGA (USH2A-AS1)
NM_206933.3:c.3323_3324insTCT (USH2A)	NP_996816.2:p.Gln1108delinsHisLeu
NM_007123.6:c.3323_3324insTCT (USH2A)	NP_009054.6:p.Gln1108delinsHisLeu
NM_206933.4:c.3323_3324insTCT (USH2A) MANE Select	NP_996816.3:p.Gln1108delinsHisLeu