Canonical Allele Identifier: CA423309360

Gene: USH2A

Linked Data

• dbSNP Id: rs1326244147
• gnomAD v2: 1-215990655-TTA-T
• gnomAD v3: 1-215817313-TTA-T
• gnomAD v4: 1-215817313-TTA-T
• MyVariant Identifiers: chr1:g.215990656_215990657del (hg19) ; chr1:g.215817314_215817315del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817319_215817320del , CM000663.2:g.215817319_215817320del	GRCh38
NC_000001.10:g.215990661_215990662del , CM000663.1:g.215990661_215990662del	GRCh37
NC_000001.9:g.214057284_214057285del	NCBI36
NG_009497.1:g.611082_611083del
NG_009497.2:g.611134_611135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-120_9372-119del MANE Select	ENSP00000305941.3:n.9372-120_9372-119del
ENST00000674083.1:c.9372-120_9372-119del	ENSP00000501296.1:n.9372-120_9372-119del
ENST00000307340.7:c.9372-120_9372-119del	ENSP00000305941.3:n.9372-120_9372-119del
NM_206933.2:c.9372-120_9372-119del	NP_996816.2:n.9372-120_9372-119del
NM_206933.3:c.9372-120_9372-119del	NP_996816.2:n.9372-120_9372-119del
NM_206933.4:c.9372-120_9372-119del MANE Select	NP_996816.3:n.9372-120_9372-119del