Canonical Allele Identifier: CA1220596463

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216198084_216198085delinsCA , CM000663.2:g.216198084_216198085delinsCA	GRCh38
NC_000001.10:g.216371426_216371427delinsCA , CM000663.1:g.216371426_216371427delinsCA	GRCh37
NC_000001.9:g.214438049_214438050delinsCA	NCBI36
NG_009497.1:g.230312_230313delinsTG
NG_009497.2:g.230364_230365delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4081+230_4081+231delinsTG (USH2A) MANE Select	ENSP00000305941.3:n.4081+230_4081+231delinsTG
ENST00000674083.1:c.4081+230_4081+231delinsTG (USH2A)	ENSP00000501296.1:n.4081+230_4081+231delinsTG
ENST00000307340.7:c.4081+230_4081+231delinsTG (USH2A)	ENSP00000305941.3:n.4081+230_4081+231delinsTG
ENST00000366942.3:c.4081+230_4081+231delinsTG (USH2A)	ENSP00000355909.3:n.4081+230_4081+231delinsTG
NM_007123.5:c.4081+230_4081+231delinsTG (USH2A)	NP_009054.5:n.4081+230_4081+231delinsTG
NM_206933.2:c.4081+230_4081+231delinsTG (USH2A)	NP_996816.2:n.4081+230_4081+231delinsTG
XR_922595.1:n.354+2159_354+2160delinsCA (USH2A-AS1)
XR_922596.1:n.354+2159_354+2160delinsCA (USH2A-AS1)
XR_922597.1:n.354+2159_354+2160delinsCA (USH2A-AS1)
XR_922598.1:n.484+2159_484+2160delinsCA (USH2A-AS1)
XR_922595.3:n.1076+2159_1076+2160delinsCA (USH2A-AS1)
XR_922596.3:n.1076+2159_1076+2160delinsCA (USH2A-AS1)
NM_206933.3:c.4081+230_4081+231delinsTG (USH2A)	NP_996816.2:n.4081+230_4081+231delinsTG
NM_007123.6:c.4081+230_4081+231delinsTG (USH2A)	NP_009054.6:n.4081+230_4081+231delinsTG
NM_206933.4:c.4081+230_4081+231delinsTG (USH2A) MANE Select	NP_996816.3:n.4081+230_4081+231delinsTG