Canonical Allele Identifier: CA2747720739

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780093_215780094insACA , CM000663.2:g.215780093_215780094insACA	GRCh38
NC_000001.10:g.215953435_215953436insACA , CM000663.1:g.215953435_215953436insACA	GRCh37
NC_000001.9:g.214020058_214020059insACA	NCBI36
NG_009497.1:g.648303_648304insTGT
NG_009497.2:g.648355_648356insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-53_10741-52insTGT MANE Select	ENSP00000305941.3:n.10741-53_10741-52insTGT
ENST00000674083.1:c.10741-53_10741-52insTGT	ENSP00000501296.1:n.10741-53_10741-52insTGT
ENST00000307340.7:c.10741-53_10741-52insTGT	ENSP00000305941.3:n.10741-53_10741-52insTGT
NM_206933.2:c.10741-53_10741-52insTGT	NP_996816.2:n.10741-53_10741-52insTGT
NM_206933.3:c.10741-53_10741-52insTGT	NP_996816.2:n.10741-53_10741-52insTGT
NM_206933.4:c.10741-53_10741-52insTGT MANE Select	NP_996816.3:n.10741-53_10741-52insTGT