Canonical Allele Identifier: CA2747722566

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817282_215817287del , CM000663.2:g.215817282_215817287del	GRCh38
NC_000001.10:g.215990624_215990629del , CM000663.1:g.215990624_215990629del	GRCh37
NC_000001.9:g.214057247_214057252del	NCBI36
NG_009497.1:g.611110_611115del
NG_009497.2:g.611162_611167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-92_9372-87del MANE Select	ENSP00000305941.3:n.9372-92_9372-87del
ENST00000674083.1:c.9372-92_9372-87del	ENSP00000501296.1:n.9372-92_9372-87del
ENST00000307340.7:c.9372-92_9372-87del	ENSP00000305941.3:n.9372-92_9372-87del
NM_206933.2:c.9372-92_9372-87del	NP_996816.2:n.9372-92_9372-87del
NM_206933.3:c.9372-92_9372-87del	NP_996816.2:n.9372-92_9372-87del
NM_206933.4:c.9372-92_9372-87del MANE Select	NP_996816.3:n.9372-92_9372-87del