Canonical Allele Identifier: CA2747721046

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782307_215782308insGTG , CM000663.2:g.215782307_215782308insGTG	GRCh38
NC_000001.10:g.215955649_215955650insGTG , CM000663.1:g.215955649_215955650insGTG	GRCh37
NC_000001.9:g.214022272_214022273insGTG	NCBI36
NG_009497.1:g.646089_646090insCAC
NG_009497.2:g.646141_646142insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-112_10586-111insCAC MANE Select	ENSP00000305941.3:n.10586-112_10586-111insCAC
ENST00000674083.1:c.10586-112_10586-111insCAC	ENSP00000501296.1:n.10586-112_10586-111insCAC
ENST00000307340.7:c.10586-112_10586-111insCAC	ENSP00000305941.3:n.10586-112_10586-111insCAC
NM_206933.2:c.10586-112_10586-111insCAC	NP_996816.2:n.10586-112_10586-111insCAC
NM_206933.3:c.10586-112_10586-111insCAC	NP_996816.2:n.10586-112_10586-111insCAC
NM_206933.4:c.10586-112_10586-111insCAC MANE Select	NP_996816.3:n.10586-112_10586-111insCAC