Canonical Allele Identifier: CA1394313

Gene: USH2A

Linked Data

• dbSNP Id: rs747417012
• ExAC: 1:215990472 A / AT
• gnomAD v2: 1-215990472-A-AT
• gnomAD v4: 1-215817130-A-AT
• MyVariant Identifiers: chr1:g.215990472_215990473insT (hg19) ; chr1:g.215817130_215817131insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817130_215817131insT , CM000663.2:g.215817130_215817131insT	GRCh38
NC_000001.10:g.215990472_215990473insT , CM000663.1:g.215990472_215990473insT	GRCh37
NC_000001.9:g.214057095_214057096insT	NCBI36
NG_009497.1:g.611266_611267insA
NG_009497.2:g.611318_611319insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9436_9437insA MANE Select	ENSP00000305941.3:p.Leu3146HisfsTer10
ENST00000674083.1:c.9436_9437insA	ENSP00000501296.1:p.Leu3146HisfsTer10
ENST00000307340.7:c.9436_9437insA	ENSP00000305941.3:p.Leu3146HisfsTer10
NM_206933.2:c.9436_9437insA	NP_996816.2:p.Leu3146HisfsTer10
NM_206933.3:c.9436_9437insA	NP_996816.2:p.Leu3146HisfsTer10
NM_206933.4:c.9436_9437insA MANE Select	NP_996816.3:p.Leu3146HisfsTer10