Canonical Allele Identifier: CA1220598742

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200002_216200003delinsCT , CM000663.2:g.216200002_216200003delinsCT	GRCh38
NC_000001.10:g.216373344_216373345delinsCT , CM000663.1:g.216373344_216373345delinsCT	GRCh37
NC_000001.9:g.214439967_214439968delinsCT	NCBI36
NG_009497.1:g.228394_228395delinsAG
NG_009497.2:g.228446_228447delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3435_3436delinsAG (USH2A) MANE Select	ENSP00000305941.3:p.Pro1145=
ENST00000674083.1:c.3435_3436delinsAG (USH2A)	ENSP00000501296.1:p.Pro1145=
ENST00000307340.7:c.3435_3436delinsAG (USH2A)	ENSP00000305941.3:p.Pro1145=
ENST00000366942.3:c.3435_3436delinsAG (USH2A)	ENSP00000355909.3:p.Pro1145=
NM_007123.5:c.3435_3436delinsAG (USH2A)	NP_009054.5:p.Pro1145=
NM_206933.2:c.3435_3436delinsAG (USH2A)	NP_996816.2:p.Pro1145=
XR_922595.1:n.355-4028_355-4027delinsCT (USH2A-AS1)
XR_922596.1:n.354+4077_354+4078delinsCT (USH2A-AS1)
XR_922597.1:n.354+4077_354+4078delinsCT (USH2A-AS1)
XR_922598.1:n.485-4028_485-4027delinsCT (USH2A-AS1)
XR_922595.3:n.1077-4028_1077-4027delinsCT (USH2A-AS1)
XR_922596.3:n.1076+4077_1076+4078delinsCT (USH2A-AS1)
NM_206933.3:c.3435_3436delinsAG (USH2A)	NP_996816.2:p.Pro1145=
NM_007123.6:c.3435_3436delinsAG (USH2A)	NP_009054.6:p.Pro1145=
NM_206933.4:c.3435_3436delinsAG (USH2A) MANE Select	NP_996816.3:p.Pro1145=