Canonical Allele Identifier: CA2747717459

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215670879_215670969del , CM000663.2:g.215670879_215670969del	GRCh38
NC_000001.10:g.215844221_215844311del , CM000663.1:g.215844221_215844311del	GRCh37
NC_000001.9:g.213910844_213910934del	NCBI36
NG_009497.1:g.757437_757527del
NG_009497.2:g.757489_757579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14133+12_14133+102del MANE Select	ENSP00000305941.3:n.14133+12_14133+102del
ENST00000674083.1:c.14133+12_14133+102del	ENSP00000501296.1:n.14133+12_14133+102del
ENST00000307340.7:c.14133+12_14133+102del	ENSP00000305941.3:n.14133+12_14133+102del
NM_206933.2:c.14133+12_14133+102del	NP_996816.2:n.14133+12_14133+102del
NM_206933.3:c.14133+12_14133+102del	NP_996816.2:n.14133+12_14133+102del
NM_206933.4:c.14133+12_14133+102del MANE Select	NP_996816.3:n.14133+12_14133+102del