Canonical Allele Identifier: CA2523107967

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640973_215640974insTGTTG , CM000663.2:g.215640973_215640974insTGTTG	GRCh38
NC_000001.10:g.215814315_215814316insTGTTG , CM000663.1:g.215814315_215814316insTGTTG	GRCh37
NC_000001.9:g.213880938_213880939insTGTTG	NCBI36
NG_009497.1:g.787423_787424insCAACA
NG_009497.2:g.787475_787476insCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-240_14792-239insCAACA MANE Select	ENSP00000305941.3:n.14792-240_14792-239insCAACA
ENST00000674083.1:c.14792-240_14792-239insCAACA	ENSP00000501296.1:n.14792-240_14792-239insCAACA
ENST00000307340.7:c.14792-240_14792-239insCAACA	ENSP00000305941.3:n.14792-240_14792-239insCAACA
NM_206933.2:c.14792-240_14792-239insCAACA	NP_996816.2:n.14792-240_14792-239insCAACA
NM_206933.3:c.14792-240_14792-239insCAACA	NP_996816.2:n.14792-240_14792-239insCAACA
NM_206933.4:c.14792-240_14792-239insCAACA MANE Select	NP_996816.3:n.14792-240_14792-239insCAACA