Canonical Allele Identifier: CA658823244

Gene: USH2A

Linked Data

• ClinVar Variation Id: 557761
• ClinVar RCV Id: RCV000673940 ; RCV001075401 ; RCV003453370 ; RCV003453371
• dbSNP Id: rs1553320519
• gnomAD v3: 1-216247079-GCTT-G
• gnomAD v4: 1-216247079-GCTT-G
• MyVariant Identifiers: chr1:g.216247080_216247082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247083_216247085del , CM000663.2:g.216247083_216247085del	GRCh38
NC_000001.10:g.216420425_216420427del , CM000663.1:g.216420425_216420427del	GRCh37
NC_000001.9:g.214487048_214487050del	NCBI36
NG_009497.1:g.181315_181317del
NG_009497.2:g.181367_181369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2312_2314del MANE Select	ENSP00000305941.3:p.Glu771del
ENST00000674083.1:c.2312_2314del	ENSP00000501296.1:p.Glu771del
ENST00000307340.7:c.2312_2314del	ENSP00000305941.3:p.Glu771del
ENST00000366942.3:c.2312_2314del	ENSP00000355909.3:p.Glu771del
NM_007123.5:c.2312_2314del	NP_009054.5:p.Glu771del
NM_206933.2:c.2312_2314del	NP_996816.2:p.Glu771del
NM_206933.3:c.2312_2314del	NP_996816.2:p.Glu771del
NM_007123.6:c.2312_2314del	NP_009054.6:p.Glu771del
NM_206933.4:c.2312_2314del MANE Select	NP_996816.3:p.Glu771del