Canonical Allele Identifier: CA731417522

Gene: USH2A

Linked Data

• dbSNP Id: rs1458272126
• gnomAD v3: 1-216070448-ACTGCACATCTTGAGCCAT-A
• gnomAD v4: 1-216070448-ACTGCACATCTTGAGCCAT-A
• MyVariant Identifiers: chr1:g.216243791_216243808del (hg19) ; chr1:g.216070449_216070466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070449_216070466del , CM000663.2:g.216070449_216070466del	GRCh38
NC_000001.10:g.216243791_216243808del , CM000663.1:g.216243791_216243808del	GRCh37
NC_000001.9:g.214310414_214310431del	NCBI36
NG_009497.1:g.357931_357948del
NG_009497.2:g.357983_358000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-174_5858-157del MANE Select	ENSP00000305941.3:n.5858-174_5858-157del
ENST00000674083.1:c.5858-174_5858-157del	ENSP00000501296.1:n.5858-174_5858-157del
ENST00000307340.7:c.5858-174_5858-157del	ENSP00000305941.3:n.5858-174_5858-157del
NM_206933.2:c.5858-174_5858-157del	NP_996816.2:n.5858-174_5858-157del
NM_206933.3:c.5858-174_5858-157del	NP_996816.2:n.5858-174_5858-157del
NM_206933.4:c.5858-174_5858-157del MANE Select	NP_996816.3:n.5858-174_5858-157del