Canonical Allele Identifier: CA1220426348

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799162_215799163delinsTA , CM000663.2:g.215799162_215799163delinsTA	GRCh38
NC_000001.10:g.215972504_215972505delinsTA , CM000663.1:g.215972504_215972505delinsTA	GRCh37
NC_000001.9:g.214039127_214039128delinsTA	NCBI36
NG_009497.1:g.629234_629235delinsTA
NG_009497.2:g.629286_629287delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-38_9740-37delinsTA MANE Select	ENSP00000305941.3:n.9740-38_9740-37delinsTA
ENST00000674083.1:c.9740-38_9740-37delinsTA	ENSP00000501296.1:n.9740-38_9740-37delinsTA
ENST00000307340.7:c.9740-38_9740-37delinsTA	ENSP00000305941.3:n.9740-38_9740-37delinsTA
NM_206933.2:c.9740-38_9740-37delinsTA	NP_996816.2:n.9740-38_9740-37delinsTA
NM_206933.3:c.9740-38_9740-37delinsTA	NP_996816.2:n.9740-38_9740-37delinsTA
NM_206933.4:c.9740-38_9740-37delinsTA MANE Select	NP_996816.3:n.9740-38_9740-37delinsTA