Canonical Allele Identifier: CA731447136

Gene: USH2A

Linked Data

• dbSNP Id: rs1275231746
• gnomAD v3: 1-216324451-TTCA-T
• gnomAD v4: 1-216324451-TTCA-T
• MyVariant Identifiers: chr1:g.216497794_216497796del (hg19) ; chr1:g.216324452_216324454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324456_216324458del , CM000663.2:g.216324456_216324458del	GRCh38
NC_000001.10:g.216497798_216497800del , CM000663.1:g.216497798_216497800del	GRCh37
NC_000001.9:g.214564421_214564423del	NCBI36
NG_009497.1:g.103943_103945del
NG_009497.2:g.103995_103997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1144-102_1144-100del MANE Select	ENSP00000305941.3:n.1144-102_1144-100del
ENST00000674083.1:c.1144-102_1144-100del	ENSP00000501296.1:n.1144-102_1144-100del
ENST00000307340.7:c.1144-102_1144-100del	ENSP00000305941.3:n.1144-102_1144-100del
ENST00000366942.3:c.1144-102_1144-100del	ENSP00000355909.3:n.1144-102_1144-100del
NM_007123.5:c.1144-102_1144-100del	NP_009054.5:n.1144-102_1144-100del
NM_206933.2:c.1144-102_1144-100del	NP_996816.2:n.1144-102_1144-100del
NM_206933.3:c.1144-102_1144-100del	NP_996816.2:n.1144-102_1144-100del
NM_007123.6:c.1144-102_1144-100del	NP_009054.6:n.1144-102_1144-100del
NM_206933.4:c.1144-102_1144-100del MANE Select	NP_996816.3:n.1144-102_1144-100del