Canonical Allele Identifier: CA1220416955

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782385_215782397delinsAATGATAAGAGTC , CM000663.2:g.215782385_215782397delinsAATGATAAGAGTC	GRCh38
NC_000001.10:g.215955727_215955739delinsAATGATAAGAGTC , CM000663.1:g.215955727_215955739delinsAATGATAAGAGTC	GRCh37
NC_000001.9:g.214022350_214022362delinsAATGATAAGAGTC	NCBI36
NG_009497.1:g.646000_646012delinsGACTCTTATCATT
NG_009497.2:g.646052_646064delinsGACTCTTATCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-201_10586-189delinsGACTCTTATCATT MANE Select	ENSP00000305941.3:n.10586-201_10586-189delinsGACTCTTATCATT
ENST00000674083.1:c.10586-201_10586-189delinsGACTCTTATCATT	ENSP00000501296.1:n.10586-201_10586-189delinsGACTCTTATCATT
ENST00000307340.7:c.10586-201_10586-189delinsGACTCTTATCATT	ENSP00000305941.3:n.10586-201_10586-189delinsGACTCTTATCATT
NM_206933.2:c.10586-201_10586-189delinsGACTCTTATCATT	NP_996816.2:n.10586-201_10586-189delinsGACTCTTATCATT
NM_206933.3:c.10586-201_10586-189delinsGACTCTTATCATT	NP_996816.2:n.10586-201_10586-189delinsGACTCTTATCATT
NM_206933.4:c.10586-201_10586-189delinsGACTCTTATCATT MANE Select	NP_996816.3:n.10586-201_10586-189delinsGACTCTTATCATT