Canonical Allele Identifier: CA1220542887

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070448_216070466delinsACTGCACATCTTGAGCCAT , CM000663.2:g.216070448_216070466delinsACTGCACATCTTGAGCCAT	GRCh38
NC_000001.10:g.216243790_216243808delinsACTGCACATCTTGAGCCAT , CM000663.1:g.216243790_216243808delinsACTGCACATCTTGAGCCAT	GRCh37
NC_000001.9:g.214310413_214310431delinsACTGCACATCTTGAGCCAT	NCBI36
NG_009497.1:g.357931_357949delinsATGGCTCAAGATGTGCAGT
NG_009497.2:g.357983_358001delinsATGGCTCAAGATGTGCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-174_5858-156delinsATGGCTCAAGATGTGCAGT MANE Select	ENSP00000305941.3:n.5858-174_5858-156delinsATGGCTCAAGATGTGCAG...
ENST00000674083.1:c.5858-174_5858-156delinsATGGCTCAAGATGTGCAGT	ENSP00000501296.1:n.5858-174_5858-156delinsATGGCTCAAGATGTGCAG...
ENST00000307340.7:c.5858-174_5858-156delinsATGGCTCAAGATGTGCAGT	ENSP00000305941.3:n.5858-174_5858-156delinsATGGCTCAAGATGTGCAG...
NM_206933.2:c.5858-174_5858-156delinsATGGCTCAAGATGTGCAGT	NP_996816.2:n.5858-174_5858-156delinsATGGCTCAAGATGTGCAGT
NM_206933.3:c.5858-174_5858-156delinsATGGCTCAAGATGTGCAGT	NP_996816.2:n.5858-174_5858-156delinsATGGCTCAAGATGTGCAGT
NM_206933.4:c.5858-174_5858-156delinsATGGCTCAAGATGTGCAGT MANE Select	NP_996816.3:n.5858-174_5858-156delinsATGGCTCAAGATGTGCAGT