Canonical Allele Identifier: CA2747717672
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675614_215675615insAGA , CM000663.2:g.215675614_215675615insAGA GRCh38
NC_000001.10:g.215848956_215848957insAGA , CM000663.1:g.215848956_215848957insAGA GRCh37
NC_000001.9:g.213915579_213915580insAGA NCBI36
NG_009497.1:g.752782_752783insTCT
NG_009497.2:g.752834_752835insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12296_12297insTCT MANE Select ENSP00000305941.3:p.Thr4099_Tyr4100insLeu
ENST00000674083.1:c.12296_12297insTCT ENSP00000501296.1:p.Thr4099_Tyr4100insLeu
ENST00000307340.7:c.12296_12297insTCT ENSP00000305941.3:p.Thr4099_Tyr4100insLeu
NM_206933.2:c.12296_12297insTCT NP_996816.2:p.Thr4099_Tyr4100insLeu
NM_206933.3:c.12296_12297insTCT NP_996816.2:p.Thr4099_Tyr4100insLeu
NM_206933.4:c.12296_12297insTCT MANE Select NP_996816.3:p.Thr4099_Tyr4100insLeu
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