Canonical Allele Identifier: CA2650512850
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-216246763-A-AATC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246764_216246765insTCA , CM000663.2:g.216246764_216246765insTCA GRCh38
NC_000001.10:g.216420106_216420107insTCA , CM000663.1:g.216420106_216420107insTCA GRCh37
NC_000001.9:g.214486729_214486730insTCA NCBI36
NG_009497.1:g.181633_181634insGAT
NG_009497.2:g.181685_181686insGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2630_2631insGAT MANE Select ENSP00000305941.3:p.Leu877_Arg878insIle
ENST00000674083.1:c.2630_2631insGAT ENSP00000501296.1:p.Leu877_Arg878insIle
ENST00000307340.7:c.2630_2631insGAT ENSP00000305941.3:p.Leu877_Arg878insIle
ENST00000366942.3:c.2630_2631insGAT ENSP00000355909.3:p.Leu877_Arg878insIle
NM_007123.5:c.2630_2631insGAT NP_009054.5:p.Leu877_Arg878insIle
NM_206933.2:c.2630_2631insGAT NP_996816.2:p.Leu877_Arg878insIle
NM_206933.3:c.2630_2631insGAT NP_996816.2:p.Leu877_Arg878insIle
NM_007123.6:c.2630_2631insGAT NP_009054.6:p.Leu877_Arg878insIle
NM_206933.4:c.2630_2631insGAT MANE Select NP_996816.3:p.Leu877_Arg878insIle
Search 100 bp 5'
Search 100 bp 3'