Canonical Allele Identifier: CA1220601890

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207291_216207293delinsCTG , CM000663.2:g.216207291_216207293delinsCTG	GRCh38
NC_000001.10:g.216380633_216380635delinsCTG , CM000663.1:g.216380633_216380635delinsCTG	GRCh37
NC_000001.9:g.214447256_214447258delinsCTG	NCBI36
NG_009497.1:g.221104_221106delinsCAG
NG_009497.2:g.221156_221158delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3296_3298delinsCAG (USH2A) MANE Select	ENSP00000305941.3:p.Thr1099=
ENST00000674083.1:c.3296_3298delinsCAG (USH2A)	ENSP00000501296.1:p.Thr1099=
ENST00000307340.7:c.3296_3298delinsCAG (USH2A)	ENSP00000305941.3:p.Thr1099=
ENST00000366942.3:c.3296_3298delinsCAG (USH2A)	ENSP00000355909.3:p.Thr1099=
NM_007123.5:c.3296_3298delinsCAG (USH2A)	NP_009054.5:p.Thr1099=
NM_206933.2:c.3296_3298delinsCAG (USH2A)	NP_996816.2:p.Thr1099=
XR_922596.1:n.354+11366_354+11368delinsCTG (USH2A-AS1)
XR_922597.1:n.354+11366_354+11368delinsCTG (USH2A-AS1)
XR_922596.3:n.1076+11366_1076+11368delinsCTG (USH2A-AS1)
NM_206933.3:c.3296_3298delinsCAG (USH2A)	NP_996816.2:p.Thr1099=
NM_007123.6:c.3296_3298delinsCAG (USH2A)	NP_009054.6:p.Thr1099=
NM_206933.4:c.3296_3298delinsCAG (USH2A) MANE Select	NP_996816.3:p.Thr1099=