Canonical Allele Identifier: CA1220414099

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779577_215779581delinsAAGTT , CM000663.2:g.215779577_215779581delinsAAGTT	GRCh38
NC_000001.10:g.215952919_215952923delinsAAGTT , CM000663.1:g.215952919_215952923delinsAAGTT	GRCh37
NC_000001.9:g.214019542_214019546delinsAAGTT	NCBI36
NG_009497.1:g.648816_648820delinsAACTT
NG_009497.2:g.648868_648872delinsAACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+262_10939+266delinsAACTT MANE Select	ENSP00000305941.3:n.10939+262_10939+266delinsAACTT
ENST00000674083.1:c.10939+262_10939+266delinsAACTT	ENSP00000501296.1:n.10939+262_10939+266delinsAACTT
ENST00000307340.7:c.10939+262_10939+266delinsAACTT	ENSP00000305941.3:n.10939+262_10939+266delinsAACTT
NM_206933.2:c.10939+262_10939+266delinsAACTT	NP_996816.2:n.10939+262_10939+266delinsAACTT
NM_206933.3:c.10939+262_10939+266delinsAACTT	NP_996816.2:n.10939+262_10939+266delinsAACTT
NM_206933.4:c.10939+262_10939+266delinsAACTT MANE Select	NP_996816.3:n.10939+262_10939+266delinsAACTT