Canonical Allele Identifier: CA2747720861

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780166_215780171del , CM000663.2:g.215780166_215780171del	GRCh38
NC_000001.10:g.215953508_215953513del , CM000663.1:g.215953508_215953513del	GRCh37
NC_000001.9:g.214020131_214020136del	NCBI36
NG_009497.1:g.648226_648231del
NG_009497.2:g.648278_648283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-130_10741-125del MANE Select	ENSP00000305941.3:n.10741-130_10741-125del
ENST00000674083.1:c.10741-130_10741-125del	ENSP00000501296.1:n.10741-130_10741-125del
ENST00000307340.7:c.10741-130_10741-125del	ENSP00000305941.3:n.10741-130_10741-125del
NM_206933.2:c.10741-130_10741-125del	NP_996816.2:n.10741-130_10741-125del
NM_206933.3:c.10741-130_10741-125del	NP_996816.2:n.10741-130_10741-125del
NM_206933.4:c.10741-130_10741-125del MANE Select	NP_996816.3:n.10741-130_10741-125del