Canonical Allele Identifier: CA2747716384

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640757_215640761del , CM000663.2:g.215640757_215640761del	GRCh38
NC_000001.10:g.215814099_215814103del , CM000663.1:g.215814099_215814103del	GRCh37
NC_000001.9:g.213880722_213880726del	NCBI36
NG_009497.1:g.787636_787640del
NG_009497.2:g.787688_787692del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.14792-27_14792-23del MANE Select	ENSP00000305941.3:n.14792-27_14792-23del
ENST00000674083.1:c.14792-27_14792-23del	ENSP00000501296.1:n.14792-27_14792-23del
ENST00000307340.7:c.14792-27_14792-23del	ENSP00000305941.3:n.14792-27_14792-23del
NM_206933.2:c.14792-27_14792-23del	NP_996816.2:n.14792-27_14792-23del
NM_206933.3:c.14792-27_14792-23del	NP_996816.2:n.14792-27_14792-23del
NM_206933.4:c.14792-27_14792-23del MANE Select	NP_996816.3:n.14792-27_14792-23del