Canonical Allele Identifier: CA731330022

Gene: USH2A

Linked Data

• dbSNP Id: rs1311583239
• gnomAD v3: 1-215766921-AAAG-A
• gnomAD v4: 1-215766921-AAAG-A
• MyVariant Identifiers: chr1:g.215940264_215940266del (hg19) ; chr1:g.215766922_215766924del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766925_215766927del , CM000663.2:g.215766925_215766927del	GRCh38
NC_000001.10:g.215940267_215940269del , CM000663.1:g.215940267_215940269del	GRCh37
NC_000001.9:g.214006890_214006892del	NCBI36
NG_009497.1:g.661473_661475del
NG_009497.2:g.661525_661527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10940-136_10940-134del MANE Select	ENSP00000305941.3:n.10940-136_10940-134del
ENST00000674083.1:c.10940-136_10940-134del	ENSP00000501296.1:n.10940-136_10940-134del
ENST00000307340.7:c.10940-136_10940-134del	ENSP00000305941.3:n.10940-136_10940-134del
NM_206933.2:c.10940-136_10940-134del	NP_996816.2:n.10940-136_10940-134del
NM_206933.3:c.10940-136_10940-134del	NP_996816.2:n.10940-136_10940-134del
NM_206933.4:c.10940-136_10940-134del MANE Select	NP_996816.3:n.10940-136_10940-134del