Canonical Allele Identifier: CA2586968187
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675523del , CM000663.2:g.215675523del GRCh38
NC_000001.10:g.215848865del , CM000663.1:g.215848865del GRCh37
NC_000001.9:g.213915488del NCBI36
NG_009497.1:g.752874del
NG_009497.2:g.752926del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12388del MANE Select ENSP00000305941.3:p.Leu4130Ter
ENST00000674083.1:c.12388del ENSP00000501296.1:p.Leu4130Ter
ENST00000307340.7:c.12388del ENSP00000305941.3:p.Leu4130Ter
NM_206933.2:c.12388del NP_996816.2:p.Leu4130Ter
NM_206933.3:c.12388del NP_996816.2:p.Leu4130Ter
NM_206933.4:c.12388del MANE Select NP_996816.3:p.Leu4130Ter
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