Canonical Allele Identifier: CA2747716421

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640780_215640786del , CM000663.2:g.215640780_215640786del	GRCh38
NC_000001.10:g.215814122_215814128del , CM000663.1:g.215814122_215814128del	GRCh37
NC_000001.9:g.213880745_213880751del	NCBI36
NG_009497.1:g.787611_787617del
NG_009497.2:g.787663_787669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-52_14792-46del MANE Select	ENSP00000305941.3:n.14792-52_14792-46del
ENST00000674083.1:c.14792-52_14792-46del	ENSP00000501296.1:n.14792-52_14792-46del
ENST00000307340.7:c.14792-52_14792-46del	ENSP00000305941.3:n.14792-52_14792-46del
NM_206933.2:c.14792-52_14792-46del	NP_996816.2:n.14792-52_14792-46del
NM_206933.3:c.14792-52_14792-46del	NP_996816.2:n.14792-52_14792-46del
NM_206933.4:c.14792-52_14792-46del MANE Select	NP_996816.3:n.14792-52_14792-46del