Canonical Allele Identifier: CA2747717511

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671369_215671370insACA , CM000663.2:g.215671369_215671370insACA	GRCh38
NC_000001.10:g.215844711_215844712insACA , CM000663.1:g.215844711_215844712insACA	GRCh37
NC_000001.9:g.213911334_213911335insACA	NCBI36
NG_009497.1:g.757027_757028insTGT
NG_009497.2:g.757079_757080insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-77_13812-76insTGT MANE Select	ENSP00000305941.3:n.13812-77_13812-76insTGT
ENST00000674083.1:c.13812-77_13812-76insTGT	ENSP00000501296.1:n.13812-77_13812-76insTGT
ENST00000307340.7:c.13812-77_13812-76insTGT	ENSP00000305941.3:n.13812-77_13812-76insTGT
NM_206933.2:c.13812-77_13812-76insTGT	NP_996816.2:n.13812-77_13812-76insTGT
NM_206933.3:c.13812-77_13812-76insTGT	NP_996816.2:n.13812-77_13812-76insTGT
NM_206933.4:c.13812-77_13812-76insTGT MANE Select	NP_996816.3:n.13812-77_13812-76insTGT