Canonical Allele Identifier: CA2747716528

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640854_215640855insCC , CM000663.2:g.215640854_215640855insCC	GRCh38
NC_000001.10:g.215814196_215814197insCC , CM000663.1:g.215814196_215814197insCC	GRCh37
NC_000001.9:g.213880819_213880820insCC	NCBI36
NG_009497.1:g.787542_787543insGG
NG_009497.2:g.787594_787595insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-121_14792-120insGG MANE Select	ENSP00000305941.3:n.14792-121_14792-120insGG
ENST00000674083.1:c.14792-121_14792-120insGG	ENSP00000501296.1:n.14792-121_14792-120insGG
ENST00000307340.7:c.14792-121_14792-120insGG	ENSP00000305941.3:n.14792-121_14792-120insGG
NM_206933.2:c.14792-121_14792-120insGG	NP_996816.2:n.14792-121_14792-120insGG
NM_206933.3:c.14792-121_14792-120insGG	NP_996816.2:n.14792-121_14792-120insGG
NM_206933.4:c.14792-121_14792-120insGG MANE Select	NP_996816.3:n.14792-121_14792-120insGG