Canonical Allele Identifier: CA529001999

Gene: USH2A

Linked Data

• dbSNP Id: rs1241550093
• gnomAD v2: 1-215844218-CTTT-C
• gnomAD v3: 1-215670876-CTTT-C
• gnomAD v4: 1-215670876-CTTT-C
• MyVariant Identifiers: chr1:g.215844219_215844221del (hg19) ; chr1:g.215670877_215670879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215670877_215670879del , CM000663.2:g.215670877_215670879del	GRCh38
NC_000001.10:g.215844219_215844221del , CM000663.1:g.215844219_215844221del	GRCh37
NC_000001.9:g.213910842_213910844del	NCBI36
NG_009497.1:g.757518_757520del
NG_009497.2:g.757570_757572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14133+93_14133+95del MANE Select	ENSP00000305941.3:n.14133+93_14133+95del
ENST00000674083.1:c.14133+93_14133+95del	ENSP00000501296.1:n.14133+93_14133+95del
ENST00000307340.7:c.14133+93_14133+95del	ENSP00000305941.3:n.14133+93_14133+95del
NM_206933.2:c.14133+93_14133+95del	NP_996816.2:n.14133+93_14133+95del
NM_206933.3:c.14133+93_14133+95del	NP_996816.2:n.14133+93_14133+95del
NM_206933.4:c.14133+93_14133+95del MANE Select	NP_996816.3:n.14133+93_14133+95del