Canonical Allele Identifier: CA2650528414

Gene: USH2A

Linked Data

• gnomAD v4: 1-215817320-TGAAATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817321_215817326del , CM000663.2:g.215817321_215817326del	GRCh38
NC_000001.10:g.215990663_215990668del , CM000663.1:g.215990663_215990668del	GRCh37
NC_000001.9:g.214057286_214057291del	NCBI36
NG_009497.1:g.611071_611076del
NG_009497.2:g.611123_611128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-131_9372-126del MANE Select	ENSP00000305941.3:n.9372-131_9372-126del
ENST00000674083.1:c.9372-131_9372-126del	ENSP00000501296.1:n.9372-131_9372-126del
ENST00000307340.7:c.9372-131_9372-126del	ENSP00000305941.3:n.9372-131_9372-126del
NM_206933.2:c.9372-131_9372-126del	NP_996816.2:n.9372-131_9372-126del
NM_206933.3:c.9372-131_9372-126del	NP_996816.2:n.9372-131_9372-126del
NM_206933.4:c.9372-131_9372-126del MANE Select	NP_996816.3:n.9372-131_9372-126del