Canonical Allele Identifier: CA2747734318

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199508_216199581del , CM000663.2:g.216199508_216199581del	GRCh38
NC_000001.10:g.216372850_216372923del , CM000663.1:g.216372850_216372923del	GRCh37
NC_000001.9:g.214439473_214439546del	NCBI36
NG_009497.1:g.228822_228895del
NG_009497.2:g.228874_228947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3811+52_3811+125del (USH2A) MANE Select	ENSP00000305941.3:n.3811+52_3811+125del
ENST00000674083.1:c.3811+52_3811+125del (USH2A)	ENSP00000501296.1:n.3811+52_3811+125del
ENST00000307340.7:c.3811+52_3811+125del (USH2A)	ENSP00000305941.3:n.3811+52_3811+125del
ENST00000366942.3:c.3811+52_3811+125del (USH2A)	ENSP00000355909.3:n.3811+52_3811+125del
NM_007123.5:c.3811+52_3811+125del (USH2A)	NP_009054.5:n.3811+52_3811+125del
NM_206933.2:c.3811+52_3811+125del (USH2A)	NP_996816.2:n.3811+52_3811+125del
XR_922595.1:n.354+3583_354+3656del (USH2A-AS1)
XR_922596.1:n.354+3583_354+3656del (USH2A-AS1)
XR_922597.1:n.354+3583_354+3656del (USH2A-AS1)
XR_922598.1:n.484+3583_484+3656del (USH2A-AS1)
XR_922595.3:n.1076+3583_1076+3656del (USH2A-AS1)
XR_922596.3:n.1076+3583_1076+3656del (USH2A-AS1)
NM_206933.3:c.3811+52_3811+125del (USH2A)	NP_996816.2:n.3811+52_3811+125del
NM_007123.6:c.3811+52_3811+125del (USH2A)	NP_009054.6:n.3811+52_3811+125del
NM_206933.4:c.3811+52_3811+125del (USH2A) MANE Select	NP_996816.3:n.3811+52_3811+125del