Canonical Allele Identifier: CA2747722511

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817254_215817255del , CM000663.2:g.215817254_215817255del	GRCh38
NC_000001.10:g.215990596_215990597del , CM000663.1:g.215990596_215990597del	GRCh37
NC_000001.9:g.214057219_214057220del	NCBI36
NG_009497.1:g.611142_611143del
NG_009497.2:g.611194_611195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-60_9372-59del MANE Select	ENSP00000305941.3:n.9372-60_9372-59del
ENST00000674083.1:c.9372-60_9372-59del	ENSP00000501296.1:n.9372-60_9372-59del
ENST00000307340.7:c.9372-60_9372-59del	ENSP00000305941.3:n.9372-60_9372-59del
NM_206933.2:c.9372-60_9372-59del	NP_996816.2:n.9372-60_9372-59del
NM_206933.3:c.9372-60_9372-59del	NP_996816.2:n.9372-60_9372-59del
NM_206933.4:c.9372-60_9372-59del MANE Select	NP_996816.3:n.9372-60_9372-59del