Canonical Allele Identifier: CA2650528421

Gene: USH2A

Linked Data

• gnomAD v4: 1-215817331-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817335dup , CM000663.2:g.215817335dup	GRCh38
NC_000001.10:g.215990677dup , CM000663.1:g.215990677dup	GRCh37
NC_000001.9:g.214057300dup	NCBI36
NG_009497.1:g.611065dup
NG_009497.2:g.611117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-137dup MANE Select	ENSP00000305941.3:n.9372-137dup
ENST00000674083.1:c.9372-137dup	ENSP00000501296.1:n.9372-137dup
ENST00000307340.7:c.9372-137dup	ENSP00000305941.3:n.9372-137dup
NM_206933.2:c.9372-137dup	NP_996816.2:n.9372-137dup
NM_206933.3:c.9372-137dup	NP_996816.2:n.9372-137dup
NM_206933.4:c.9372-137dup MANE Select	NP_996816.3:n.9372-137dup