Canonical Allele Identifier: CA1148243737

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215816986_215816989delinsAAAA , CM000663.2:g.215816986_215816989delinsAAAA	GRCh38
NC_000001.10:g.215990328_215990331delinsAAAA , CM000663.1:g.215990328_215990331delinsAAAA	GRCh37
NC_000001.9:g.214056951_214056954delinsAAAA	NCBI36
NG_009497.1:g.611408_611411delinsTTTT
NG_009497.2:g.611460_611463delinsTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9570+8_9570+11delinsTTTT MANE Select	ENSP00000305941.3:n.9570+8_9570+11delinsTTTT
ENST00000674083.1:c.9570+8_9570+11delinsTTTT	ENSP00000501296.1:n.9570+8_9570+11delinsTTTT
ENST00000307340.7:c.9570+8_9570+11delinsTTTT	ENSP00000305941.3:n.9570+8_9570+11delinsTTTT
NM_206933.2:c.9570+8_9570+11delinsTTTT	NP_996816.2:n.9570+8_9570+11delinsTTTT
NM_206933.3:c.9570+8_9570+11delinsTTTT	NP_996816.2:n.9570+8_9570+11delinsTTTT
NM_206933.4:c.9570+8_9570+11delinsTTTT MANE Select	NP_996816.3:n.9570+8_9570+11delinsTTTT