Canonical Allele Identifier: CA2747716381

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640756_215640759del , CM000663.2:g.215640756_215640759del	GRCh38
NC_000001.10:g.215814098_215814101del , CM000663.1:g.215814098_215814101del	GRCh37
NC_000001.9:g.213880721_213880724del	NCBI36
NG_009497.1:g.787638_787641del
NG_009497.2:g.787690_787693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-25_14792-22del MANE Select	ENSP00000305941.3:n.14792-25_14792-22del
ENST00000674083.1:c.14792-25_14792-22del	ENSP00000501296.1:n.14792-25_14792-22del
ENST00000307340.7:c.14792-25_14792-22del	ENSP00000305941.3:n.14792-25_14792-22del
NM_206933.2:c.14792-25_14792-22del	NP_996816.2:n.14792-25_14792-22del
NM_206933.3:c.14792-25_14792-22del	NP_996816.2:n.14792-25_14792-22del
NM_206933.4:c.14792-25_14792-22del MANE Select	NP_996816.3:n.14792-25_14792-22del