Canonical Allele Identifier: CA1220417033

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782448_215782459delinsAACTCTTTCCCC , CM000663.2:g.215782448_215782459delinsAACTCTTTCCCC	GRCh38
NC_000001.10:g.215955790_215955801delinsAACTCTTTCCCC , CM000663.1:g.215955790_215955801delinsAACTCTTTCCCC	GRCh37
NC_000001.9:g.214022413_214022424delinsAACTCTTTCCCC	NCBI36
NG_009497.1:g.645938_645949delinsGGGGAAAGAGTT
NG_009497.2:g.645990_646001delinsGGGGAAAGAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-263_10586-252delinsGGGGAAAGAGTT MANE Select	ENSP00000305941.3:n.10586-263_10586-252delinsGGGGAAAGAGTT
ENST00000674083.1:c.10586-263_10586-252delinsGGGGAAAGAGTT	ENSP00000501296.1:n.10586-263_10586-252delinsGGGGAAAGAGTT
ENST00000307340.7:c.10586-263_10586-252delinsGGGGAAAGAGTT	ENSP00000305941.3:n.10586-263_10586-252delinsGGGGAAAGAGTT
NM_206933.2:c.10586-263_10586-252delinsGGGGAAAGAGTT	NP_996816.2:n.10586-263_10586-252delinsGGGGAAAGAGTT
NM_206933.3:c.10586-263_10586-252delinsGGGGAAAGAGTT	NP_996816.2:n.10586-263_10586-252delinsGGGGAAAGAGTT
NM_206933.4:c.10586-263_10586-252delinsGGGGAAAGAGTT MANE Select	NP_996816.3:n.10586-263_10586-252delinsGGGGAAAGAGTT