Canonical Allele Identifier: CA2747717573

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671465_215671466del , CM000663.2:g.215671465_215671466del	GRCh38
NC_000001.10:g.215844807_215844808del , CM000663.1:g.215844807_215844808del	GRCh37
NC_000001.9:g.213911430_213911431del	NCBI36
NG_009497.1:g.756931_756932del
NG_009497.2:g.756983_756984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-173_13812-172del MANE Select	ENSP00000305941.3:n.13812-173_13812-172del
ENST00000674083.1:c.13812-173_13812-172del	ENSP00000501296.1:n.13812-173_13812-172del
ENST00000307340.7:c.13812-173_13812-172del	ENSP00000305941.3:n.13812-173_13812-172del
NM_206933.2:c.13812-173_13812-172del	NP_996816.2:n.13812-173_13812-172del
NM_206933.3:c.13812-173_13812-172del	NP_996816.2:n.13812-173_13812-172del
NM_206933.4:c.13812-173_13812-172del MANE Select	NP_996816.3:n.13812-173_13812-172del