Canonical Allele Identifier: CA1220359809

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640837_215640838delinsAT , CM000663.2:g.215640837_215640838delinsAT	GRCh38
NC_000001.10:g.215814179_215814180delinsAT , CM000663.1:g.215814179_215814180delinsAT	GRCh37
NC_000001.9:g.213880802_213880803delinsAT	NCBI36
NG_009497.1:g.787559_787560delinsAT
NG_009497.2:g.787611_787612delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-104_14792-103delinsAT MANE Select	ENSP00000305941.3:n.14792-104_14792-103delinsAT
ENST00000674083.1:c.14792-104_14792-103delinsAT	ENSP00000501296.1:n.14792-104_14792-103delinsAT
ENST00000307340.7:c.14792-104_14792-103delinsAT	ENSP00000305941.3:n.14792-104_14792-103delinsAT
NM_206933.2:c.14792-104_14792-103delinsAT	NP_996816.2:n.14792-104_14792-103delinsAT
NM_206933.3:c.14792-104_14792-103delinsAT	NP_996816.2:n.14792-104_14792-103delinsAT
NM_206933.4:c.14792-104_14792-103delinsAT MANE Select	NP_996816.3:n.14792-104_14792-103delinsAT