Canonical Allele Identifier: CA658822782

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 550234
• ClinVar RCV Id: RCV000664928 ; RCV002530641 ; RCV003451629 ; RCV003451630 ; RCV003889943
• dbSNP Id: rs1294733964
• gnomAD v4: 1-216199839-CCTT-C
• MyVariant Identifiers: chr1:g.216373182_216373184del (hg19) ; chr1:g.216199840_216199842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199841_216199843del , CM000663.2:g.216199841_216199843del	GRCh38
NC_000001.10:g.216373183_216373185del , CM000663.1:g.216373183_216373185del	GRCh37
NC_000001.9:g.214439806_214439808del	NCBI36
NG_009497.1:g.228555_228557del
NG_009497.2:g.228607_228609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3596_3598del (USH2A) MANE Select	ENSP00000305941.3:p.Glu1199del
ENST00000674083.1:c.3596_3598del (USH2A)	ENSP00000501296.1:p.Glu1199del
ENST00000307340.7:c.3596_3598del (USH2A)	ENSP00000305941.3:p.Glu1199del
ENST00000366942.3:c.3596_3598del (USH2A)	ENSP00000355909.3:p.Glu1199del
NM_007123.5:c.3596_3598del (USH2A)	NP_009054.5:p.Glu1199del
NM_206933.2:c.3596_3598del (USH2A)	NP_996816.2:p.Glu1199del
XR_922595.1:n.354+3916_354+3918del (USH2A-AS1)
XR_922596.1:n.354+3916_354+3918del (USH2A-AS1)
XR_922597.1:n.354+3916_354+3918del (USH2A-AS1)
XR_922598.1:n.484+3916_484+3918del (USH2A-AS1)
XR_922595.3:n.1076+3916_1076+3918del (USH2A-AS1)
XR_922596.3:n.1076+3916_1076+3918del (USH2A-AS1)
NM_206933.3:c.3596_3598del (USH2A)	NP_996816.2:p.Glu1199del
NM_007123.6:c.3596_3598del (USH2A)	NP_009054.6:p.Glu1199del
NM_206933.4:c.3596_3598del (USH2A) MANE Select	NP_996816.3:p.Glu1199del