Canonical Allele Identifier: CA1220542897

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070462_216070463delinsGC , CM000663.2:g.216070462_216070463delinsGC	GRCh38
NC_000001.10:g.216243804_216243805delinsGC , CM000663.1:g.216243804_216243805delinsGC	GRCh37
NC_000001.9:g.214310427_214310428delinsGC	NCBI36
NG_009497.1:g.357934_357935delinsGC
NG_009497.2:g.357986_357987delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-171_5858-170delinsGC MANE Select	ENSP00000305941.3:n.5858-171_5858-170delinsGC
ENST00000674083.1:c.5858-171_5858-170delinsGC	ENSP00000501296.1:n.5858-171_5858-170delinsGC
ENST00000307340.7:c.5858-171_5858-170delinsGC	ENSP00000305941.3:n.5858-171_5858-170delinsGC
NM_206933.2:c.5858-171_5858-170delinsGC	NP_996816.2:n.5858-171_5858-170delinsGC
NM_206933.3:c.5858-171_5858-170delinsGC	NP_996816.2:n.5858-171_5858-170delinsGC
NM_206933.4:c.5858-171_5858-170delinsGC MANE Select	NP_996816.3:n.5858-171_5858-170delinsGC