Canonical Allele Identifier: CA528749038

Gene: USH2A USH2A-AS1

Linked Data

• dbSNP Id: rs765603130
• gnomAD v2: 1-216380779-T-TA
• MyVariant Identifiers: chr1:g.216380779_216380780insA (hg19) ; chr1:g.216207437_216207438insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207437_216207438insA , CM000663.2:g.216207437_216207438insA	GRCh38
NC_000001.10:g.216380779_216380780insA , CM000663.1:g.216380779_216380780insA	GRCh37
NC_000001.9:g.214447402_214447403insA	NCBI36
NG_009497.1:g.220959_220960insT
NG_009497.2:g.221011_221012insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3158-7_3158-6insT (USH2A) MANE Select	ENSP00000305941.3:n.3158-7_3158-6insT
ENST00000674083.1:c.3158-7_3158-6insT (USH2A)	ENSP00000501296.1:n.3158-7_3158-6insT
ENST00000307340.7:c.3158-7_3158-6insT (USH2A)	ENSP00000305941.3:n.3158-7_3158-6insT
ENST00000366942.3:c.3158-7_3158-6insT (USH2A)	ENSP00000355909.3:n.3158-7_3158-6insT
NM_007123.5:c.3158-7_3158-6insT (USH2A)	NP_009054.5:n.3158-7_3158-6insT
NM_206933.2:c.3158-7_3158-6insT (USH2A)	NP_996816.2:n.3158-7_3158-6insT
XR_922596.1:n.354+11512_354+11513insA (USH2A-AS1)
XR_922597.1:n.354+11512_354+11513insA (USH2A-AS1)
XR_922596.3:n.1076+11512_1076+11513insA (USH2A-AS1)
NM_206933.3:c.3158-7_3158-6insT (USH2A)	NP_996816.2:n.3158-7_3158-6insT
NM_007123.6:c.3158-7_3158-6insT (USH2A)	NP_009054.6:n.3158-7_3158-6insT
NM_206933.4:c.3158-7_3158-6insT (USH2A) MANE Select	NP_996816.3:n.3158-7_3158-6insT