Canonical Allele Identifier: CA2650503281

Gene: USH2A

Linked Data

• gnomAD v4: 1-215799244-GAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799249_215799251del , CM000663.2:g.215799249_215799251del	GRCh38
NC_000001.10:g.215972591_215972593del , CM000663.1:g.215972591_215972593del	GRCh37
NC_000001.9:g.214039214_214039216del	NCBI36
NG_009497.1:g.629150_629152del
NG_009497.2:g.629202_629204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-122_9740-120del MANE Select	ENSP00000305941.3:n.9740-122_9740-120del
ENST00000674083.1:c.9740-122_9740-120del	ENSP00000501296.1:n.9740-122_9740-120del
ENST00000307340.7:c.9740-122_9740-120del	ENSP00000305941.3:n.9740-122_9740-120del
NM_206933.2:c.9740-122_9740-120del	NP_996816.2:n.9740-122_9740-120del
NM_206933.3:c.9740-122_9740-120del	NP_996816.2:n.9740-122_9740-120del
NM_206933.4:c.9740-122_9740-120del MANE Select	NP_996816.3:n.9740-122_9740-120del