Canonical Allele Identifier: CA731385637

Gene: USH2A

Linked Data

• dbSNP Id: rs1340769483
• gnomAD v3: 1-215817337-AAATC-A
• gnomAD v4: 1-215817337-AAATC-A
• MyVariant Identifiers: chr1:g.215990680_215990683del (hg19) ; chr1:g.215817338_215817341del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817344_215817347del , CM000663.2:g.215817344_215817347del	GRCh38
NC_000001.10:g.215990686_215990689del , CM000663.1:g.215990686_215990689del	GRCh37
NC_000001.9:g.214057309_214057312del	NCBI36
NG_009497.1:g.611056_611059del
NG_009497.2:g.611108_611111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-146_9372-143del MANE Select	ENSP00000305941.3:n.9372-146_9372-143del
ENST00000674083.1:c.9372-146_9372-143del	ENSP00000501296.1:n.9372-146_9372-143del
ENST00000307340.7:c.9372-146_9372-143del	ENSP00000305941.3:n.9372-146_9372-143del
NM_206933.2:c.9372-146_9372-143del	NP_996816.2:n.9372-146_9372-143del
NM_206933.3:c.9372-146_9372-143del	NP_996816.2:n.9372-146_9372-143del
NM_206933.4:c.9372-146_9372-143del MANE Select	NP_996816.3:n.9372-146_9372-143del