Canonical Allele Identifier: CA2747720118

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215759442_215759591del , CM000663.2:g.215759442_215759591del	GRCh38
NC_000001.10:g.215932784_215932933del , CM000663.1:g.215932784_215932933del	GRCh37
NC_000001.9:g.213999407_213999556del	NCBI36
NG_009497.1:g.668811_668960del
NG_009497.2:g.668863_669012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11231+74_11231+223del MANE Select	ENSP00000305941.3:n.11231+74_11231+223del
ENST00000674083.1:c.11231+74_11231+223del	ENSP00000501296.1:n.11231+74_11231+223del
ENST00000307340.7:c.11231+74_11231+223del	ENSP00000305941.3:n.11231+74_11231+223del
NM_206933.2:c.11231+74_11231+223del	NP_996816.2:n.11231+74_11231+223del
NM_206933.3:c.11231+74_11231+223del	NP_996816.2:n.11231+74_11231+223del
NM_206933.4:c.11231+74_11231+223del MANE Select	NP_996816.3:n.11231+74_11231+223del