Canonical Allele Identifier: CA1220542905

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070470_216070481delinsGTTTAAGCGATA , CM000663.2:g.216070470_216070481delinsGTTTAAGCGATA	GRCh38
NC_000001.10:g.216243812_216243823delinsGTTTAAGCGATA , CM000663.1:g.216243812_216243823delinsGTTTAAGCGATA	GRCh37
NC_000001.9:g.214310435_214310446delinsGTTTAAGCGATA	NCBI36
NG_009497.1:g.357916_357927delinsTATCGCTTAAAC
NG_009497.2:g.357968_357979delinsTATCGCTTAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-189_5858-178delinsTATCGCTTAAAC MANE Select	ENSP00000305941.3:n.5858-189_5858-178delinsTATCGCTTAAAC
ENST00000674083.1:c.5858-189_5858-178delinsTATCGCTTAAAC	ENSP00000501296.1:n.5858-189_5858-178delinsTATCGCTTAAAC
ENST00000307340.7:c.5858-189_5858-178delinsTATCGCTTAAAC	ENSP00000305941.3:n.5858-189_5858-178delinsTATCGCTTAAAC
NM_206933.2:c.5858-189_5858-178delinsTATCGCTTAAAC	NP_996816.2:n.5858-189_5858-178delinsTATCGCTTAAAC
NM_206933.3:c.5858-189_5858-178delinsTATCGCTTAAAC	NP_996816.2:n.5858-189_5858-178delinsTATCGCTTAAAC
NM_206933.4:c.5858-189_5858-178delinsTATCGCTTAAAC MANE Select	NP_996816.3:n.5858-189_5858-178delinsTATCGCTTAAAC