Canonical Allele Identifier: CA731342452
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1297968423
MyVariant Identifiers: chr1:g.215901916_215901923del (hg19) chr1:g.215728574_215728581del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728575_215728582del , CM000663.2:g.215728575_215728582del GRCh38
NC_000001.10:g.215901917_215901924del , CM000663.1:g.215901917_215901924del GRCh37
NC_000001.9:g.213968540_213968547del NCBI36
NG_009497.1:g.699816_699823del
NG_009497.2:g.699868_699875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-197_11712-190del MANE Select ENSP00000305941.3:n.11712-197_11712-190del
ENST00000674083.1:c.11712-197_11712-190del ENSP00000501296.1:n.11712-197_11712-190del
ENST00000307340.7:c.11712-197_11712-190del ENSP00000305941.3:n.11712-197_11712-190del
NM_206933.2:c.11712-197_11712-190del NP_996816.2:n.11712-197_11712-190del
NM_206933.3:c.11712-197_11712-190del NP_996816.2:n.11712-197_11712-190del
NM_206933.4:c.11712-197_11712-190del MANE Select NP_996816.3:n.11712-197_11712-190del
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