Canonical Allele Identifier: CA1220598765

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200064_216200066delinsATG , CM000663.2:g.216200064_216200066delinsATG	GRCh38
NC_000001.10:g.216373406_216373408delinsATG , CM000663.1:g.216373406_216373408delinsATG	GRCh37
NC_000001.9:g.214440029_214440031delinsATG	NCBI36
NG_009497.1:g.228331_228333delinsCAT
NG_009497.2:g.228383_228385delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3372_3374delinsCAT (USH2A) MANE Select	ENSP00000305941.3:p.Tyr1124=
ENST00000674083.1:c.3372_3374delinsCAT (USH2A)	ENSP00000501296.1:p.Tyr1124=
ENST00000307340.7:c.3372_3374delinsCAT (USH2A)	ENSP00000305941.3:p.Tyr1124=
ENST00000366942.3:c.3372_3374delinsCAT (USH2A)	ENSP00000355909.3:p.Tyr1124=
NM_007123.5:c.3372_3374delinsCAT (USH2A)	NP_009054.5:p.Tyr1124=
NM_206933.2:c.3372_3374delinsCAT (USH2A)	NP_996816.2:p.Tyr1124=
XR_922595.1:n.355-3966_355-3964delinsATG (USH2A-AS1)
XR_922596.1:n.354+4139_354+4141delinsATG (USH2A-AS1)
XR_922597.1:n.354+4139_354+4141delinsATG (USH2A-AS1)
XR_922598.1:n.485-3966_485-3964delinsATG (USH2A-AS1)
XR_922595.3:n.1077-3966_1077-3964delinsATG (USH2A-AS1)
XR_922596.3:n.1076+4139_1076+4141delinsATG (USH2A-AS1)
NM_206933.3:c.3372_3374delinsCAT (USH2A)	NP_996816.2:p.Tyr1124=
NM_007123.6:c.3372_3374delinsCAT (USH2A)	NP_009054.6:p.Tyr1124=
NM_206933.4:c.3372_3374delinsCAT (USH2A) MANE Select	NP_996816.3:p.Tyr1124=