Canonical Allele Identifier: CA1140519272

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671430_215671432delinsAAA , CM000663.2:g.215671430_215671432delinsAAA	GRCh38
NC_000001.10:g.215844772_215844774delinsAAA , CM000663.1:g.215844772_215844774delinsAAA	GRCh37
NC_000001.9:g.213911395_213911397delinsAAA	NCBI36
NG_009497.1:g.756965_756967delinsTTT
NG_009497.2:g.757017_757019delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-139_13812-137delinsTTT MANE Select	ENSP00000305941.3:n.13812-139_13812-137delinsTTT
ENST00000674083.1:c.13812-139_13812-137delinsTTT	ENSP00000501296.1:n.13812-139_13812-137delinsTTT
ENST00000307340.7:c.13812-139_13812-137delinsTTT	ENSP00000305941.3:n.13812-139_13812-137delinsTTT
NM_206933.2:c.13812-139_13812-137delinsTTT	NP_996816.2:n.13812-139_13812-137delinsTTT
NM_206933.3:c.13812-139_13812-137delinsTTT	NP_996816.2:n.13812-139_13812-137delinsTTT
NM_206933.4:c.13812-139_13812-137delinsTTT MANE Select	NP_996816.3:n.13812-139_13812-137delinsTTT