Canonical Allele Identifier: CA2573662647

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671238del , CM000663.2:g.215671238del	GRCh38
NC_000001.10:g.215844580del , CM000663.1:g.215844580del	GRCh37
NC_000001.9:g.213911203del	NCBI36
NG_009497.1:g.757159del
NG_009497.2:g.757211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13867del MANE Select	ENSP00000305941.3:p.Thr4623HisfsTer11
ENST00000674083.1:c.13867del	ENSP00000501296.1:p.Thr4623HisfsTer11
ENST00000307340.7:c.13867del	ENSP00000305941.3:p.Thr4623HisfsTer11
NM_206933.2:c.13867del	NP_996816.2:p.Thr4623HisfsTer11
NM_206933.3:c.13867del	NP_996816.2:p.Thr4623HisfsTer11
NM_206933.4:c.13867del MANE Select	NP_996816.3:p.Thr4623HisfsTer11