Canonical Allele Identifier: CA1220374009
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675644_215675648delinsAACTT , CM000663.2:g.215675644_215675648delinsAACTT GRCh38
NC_000001.10:g.215848986_215848990delinsAACTT , CM000663.1:g.215848986_215848990delinsAACTT GRCh37
NC_000001.9:g.213915609_213915613delinsAACTT NCBI36
NG_009497.1:g.752749_752753delinsAAGTT
NG_009497.2:g.752801_752805delinsAAGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-32_12295-28delinsAAGTT MANE Select ENSP00000305941.3:n.12295-32_12295-28delinsAAGTT
ENST00000674083.1:c.12295-32_12295-28delinsAAGTT ENSP00000501296.1:n.12295-32_12295-28delinsAAGTT
ENST00000307340.7:c.12295-32_12295-28delinsAAGTT ENSP00000305941.3:n.12295-32_12295-28delinsAAGTT
NM_206933.2:c.12295-32_12295-28delinsAAGTT NP_996816.2:n.12295-32_12295-28delinsAAGTT
NM_206933.3:c.12295-32_12295-28delinsAAGTT NP_996816.2:n.12295-32_12295-28delinsAAGTT
NM_206933.4:c.12295-32_12295-28delinsAAGTT MANE Select NP_996816.3:n.12295-32_12295-28delinsAAGTT
Search 100 bp 5'
Search 100 bp 3'