Canonical Allele Identifier: CA1220426207

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799053_215799054delinsAT , CM000663.2:g.215799053_215799054delinsAT	GRCh38
NC_000001.10:g.215972395_215972396delinsAT , CM000663.1:g.215972395_215972396delinsAT	GRCh37
NC_000001.9:g.214039018_214039019delinsAT	NCBI36
NG_009497.1:g.629343_629344delinsAT
NG_009497.2:g.629395_629396delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9811_9812delinsAT MANE Select	ENSP00000305941.3:p.Met3271=
ENST00000674083.1:c.9811_9812delinsAT	ENSP00000501296.1:p.Met3271=
ENST00000307340.7:c.9811_9812delinsAT	ENSP00000305941.3:p.Met3271=
NM_206933.2:c.9811_9812delinsAT	NP_996816.2:p.Met3271=
NM_206933.3:c.9811_9812delinsAT	NP_996816.2:p.Met3271=
NM_206933.4:c.9811_9812delinsAT MANE Select	NP_996816.3:p.Met3271=