Canonical Allele Identifier: CA2747719135
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728486_215728487insGT , CM000663.2:g.215728486_215728487insGT GRCh38
NC_000001.10:g.215901828_215901829insGT , CM000663.1:g.215901828_215901829insGT GRCh37
NC_000001.9:g.213968451_213968452insGT NCBI36
NG_009497.1:g.699910_699911insAC
NG_009497.2:g.699962_699963insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-103_11712-102insAC MANE Select ENSP00000305941.3:n.11712-103_11712-102insAC
ENST00000674083.1:c.11712-103_11712-102insAC ENSP00000501296.1:n.11712-103_11712-102insAC
ENST00000307340.7:c.11712-103_11712-102insAC ENSP00000305941.3:n.11712-103_11712-102insAC
NM_206933.2:c.11712-103_11712-102insAC NP_996816.2:n.11712-103_11712-102insAC
NM_206933.3:c.11712-103_11712-102insAC NP_996816.2:n.11712-103_11712-102insAC
NM_206933.4:c.11712-103_11712-102insAC MANE Select NP_996816.3:n.11712-103_11712-102insAC
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