Canonical Allele Identifier: CA1220434440

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817337_215817341delinsAAATC , CM000663.2:g.215817337_215817341delinsAAATC	GRCh38
NC_000001.10:g.215990679_215990683delinsAAATC , CM000663.1:g.215990679_215990683delinsAAATC	GRCh37
NC_000001.9:g.214057302_214057306delinsAAATC	NCBI36
NG_009497.1:g.611056_611060delinsGATTT
NG_009497.2:g.611108_611112delinsGATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-146_9372-142delinsGATTT MANE Select	ENSP00000305941.3:n.9372-146_9372-142delinsGATTT
ENST00000674083.1:c.9372-146_9372-142delinsGATTT	ENSP00000501296.1:n.9372-146_9372-142delinsGATTT
ENST00000307340.7:c.9372-146_9372-142delinsGATTT	ENSP00000305941.3:n.9372-146_9372-142delinsGATTT
NM_206933.2:c.9372-146_9372-142delinsGATTT	NP_996816.2:n.9372-146_9372-142delinsGATTT
NM_206933.3:c.9372-146_9372-142delinsGATTT	NP_996816.2:n.9372-146_9372-142delinsGATTT
NM_206933.4:c.9372-146_9372-142delinsGATTT MANE Select	NP_996816.3:n.9372-146_9372-142delinsGATTT