Canonical Allele Identifier: CA2747721058

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782417_215782418insCAAATCCAGGACA , CM000663.2:g.215782417_215782418insCAAATCCAGGACA	GRCh38
NC_000001.10:g.215955759_215955760insCAAATCCAGGACA , CM000663.1:g.215955759_215955760insCAAATCCAGGACA	GRCh37
NC_000001.9:g.214022382_214022383insCAAATCCAGGACA	NCBI36
NG_009497.1:g.645979_645980insTGTCCTGGATTTG
NG_009497.2:g.646031_646032insTGTCCTGGATTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-222_10586-221insTGTCCTGGATTTG MANE Select	ENSP00000305941.3:n.10586-222_10586-221insTGTCCTGGATTTG
ENST00000674083.1:c.10586-222_10586-221insTGTCCTGGATTTG	ENSP00000501296.1:n.10586-222_10586-221insTGTCCTGGATTTG
ENST00000307340.7:c.10586-222_10586-221insTGTCCTGGATTTG	ENSP00000305941.3:n.10586-222_10586-221insTGTCCTGGATTTG
NM_206933.2:c.10586-222_10586-221insTGTCCTGGATTTG	NP_996816.2:n.10586-222_10586-221insTGTCCTGGATTTG
NM_206933.3:c.10586-222_10586-221insTGTCCTGGATTTG	NP_996816.2:n.10586-222_10586-221insTGTCCTGGATTTG
NM_206933.4:c.10586-222_10586-221insTGTCCTGGATTTG MANE Select	NP_996816.3:n.10586-222_10586-221insTGTCCTGGATTTG