Canonical Allele Identifier: CA1220359886

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640988_215640989delinsTA , CM000663.2:g.215640988_215640989delinsTA	GRCh38
NC_000001.10:g.215814330_215814331delinsTA , CM000663.1:g.215814330_215814331delinsTA	GRCh37
NC_000001.9:g.213880953_213880954delinsTA	NCBI36
NG_009497.1:g.787408_787409delinsTA
NG_009497.2:g.787460_787461delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-255_14792-254delinsTA MANE Select	ENSP00000305941.3:n.14792-255_14792-254delinsTA
ENST00000674083.1:c.14792-255_14792-254delinsTA	ENSP00000501296.1:n.14792-255_14792-254delinsTA
ENST00000307340.7:c.14792-255_14792-254delinsTA	ENSP00000305941.3:n.14792-255_14792-254delinsTA
NM_206933.2:c.14792-255_14792-254delinsTA	NP_996816.2:n.14792-255_14792-254delinsTA
NM_206933.3:c.14792-255_14792-254delinsTA	NP_996816.2:n.14792-255_14792-254delinsTA
NM_206933.4:c.14792-255_14792-254delinsTA MANE Select	NP_996816.3:n.14792-255_14792-254delinsTA