Canonical Allele Identifier: CA1220601925

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207400_216207402delinsTTG , CM000663.2:g.216207400_216207402delinsTTG	GRCh38
NC_000001.10:g.216380742_216380744delinsTTG , CM000663.1:g.216380742_216380744delinsTTG	GRCh37
NC_000001.9:g.214447365_214447367delinsTTG	NCBI36
NG_009497.1:g.220995_220997delinsCAA
NG_009497.2:g.221047_221049delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3187_3189delinsCAA (USH2A) MANE Select	ENSP00000305941.3:p.Gln1063=
ENST00000674083.1:c.3187_3189delinsCAA (USH2A)	ENSP00000501296.1:p.Gln1063=
ENST00000307340.7:c.3187_3189delinsCAA (USH2A)	ENSP00000305941.3:p.Gln1063=
ENST00000366942.3:c.3187_3189delinsCAA (USH2A)	ENSP00000355909.3:p.Gln1063=
NM_007123.5:c.3187_3189delinsCAA (USH2A)	NP_009054.5:p.Gln1063=
NM_206933.2:c.3187_3189delinsCAA (USH2A)	NP_996816.2:p.Gln1063=
XR_922596.1:n.354+11475_354+11477delinsTTG (USH2A-AS1)
XR_922597.1:n.354+11475_354+11477delinsTTG (USH2A-AS1)
XR_922596.3:n.1076+11475_1076+11477delinsTTG (USH2A-AS1)
NM_206933.3:c.3187_3189delinsCAA (USH2A)	NP_996816.2:p.Gln1063=
NM_007123.6:c.3187_3189delinsCAA (USH2A)	NP_009054.6:p.Gln1063=
NM_206933.4:c.3187_3189delinsCAA (USH2A) MANE Select	NP_996816.3:p.Gln1063=