Canonical Allele Identifier: CA529002618

Gene: USH2A USH2A-AS1

Linked Data

• gnomAD v2: 1-216373470-T-TA
• gnomAD v4: 1-216200128-T-TA
• MyVariant Identifiers: chr1:g.216373470_216373471insA (hg19) ; chr1:g.216200128_216200129insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200128_216200129insA , CM000663.2:g.216200128_216200129insA	GRCh38
NC_000001.10:g.216373470_216373471insA , CM000663.1:g.216373470_216373471insA	GRCh37
NC_000001.9:g.214440093_214440094insA	NCBI36
NG_009497.1:g.228268_228269insT
NG_009497.2:g.228320_228321insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3317-8_3317-7insT (USH2A) MANE Select	ENSP00000305941.3:n.3317-8_3317-7insT
ENST00000674083.1:c.3317-8_3317-7insT (USH2A)	ENSP00000501296.1:n.3317-8_3317-7insT
ENST00000307340.7:c.3317-8_3317-7insT (USH2A)	ENSP00000305941.3:n.3317-8_3317-7insT
ENST00000366942.3:c.3317-8_3317-7insT (USH2A)	ENSP00000355909.3:n.3317-8_3317-7insT
NM_007123.5:c.3317-8_3317-7insT (USH2A)	NP_009054.5:n.3317-8_3317-7insT
NM_206933.2:c.3317-8_3317-7insT (USH2A)	NP_996816.2:n.3317-8_3317-7insT
XR_922595.1:n.355-3902_355-3901insA (USH2A-AS1)
XR_922596.1:n.354+4203_354+4204insA (USH2A-AS1)
XR_922597.1:n.354+4203_354+4204insA (USH2A-AS1)
XR_922598.1:n.485-3902_485-3901insA (USH2A-AS1)
XR_922595.3:n.1077-3902_1077-3901insA (USH2A-AS1)
XR_922596.3:n.1076+4203_1076+4204insA (USH2A-AS1)
NM_206933.3:c.3317-8_3317-7insT (USH2A)	NP_996816.2:n.3317-8_3317-7insT
NM_007123.6:c.3317-8_3317-7insT (USH2A)	NP_009054.6:n.3317-8_3317-7insT
NM_206933.4:c.3317-8_3317-7insT (USH2A) MANE Select	NP_996816.3:n.3317-8_3317-7insT