Canonical Allele Identifier: CA1220376155
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680097_215680098delinsCT , CM000663.2:g.215680097_215680098delinsCT GRCh38
NC_000001.10:g.215853439_215853440delinsCT , CM000663.1:g.215853439_215853440delinsCT GRCh37
NC_000001.9:g.213920062_213920063delinsCT NCBI36
NG_009497.1:g.748299_748300delinsAG
NG_009497.2:g.748351_748352delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12294+51_12294+52delinsAG MANE Select ENSP00000305941.3:n.12294+51_12294+52delinsAG
ENST00000674083.1:c.12294+51_12294+52delinsAG ENSP00000501296.1:n.12294+51_12294+52delinsAG
ENST00000307340.7:c.12294+51_12294+52delinsAG ENSP00000305941.3:n.12294+51_12294+52delinsAG
NM_206933.2:c.12294+51_12294+52delinsAG NP_996816.2:n.12294+51_12294+52delinsAG
NM_206933.3:c.12294+51_12294+52delinsAG NP_996816.2:n.12294+51_12294+52delinsAG
NM_206933.4:c.12294+51_12294+52delinsAG MANE Select NP_996816.3:n.12294+51_12294+52delinsAG
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