Canonical Allele Identifier: CA731346268

Gene: USH2A

Linked Data

• dbSNP Id: rs56212994
• gnomAD v3: 1-215640844-CAAAAAAAAA-C
• gnomAD v4: 1-215640844-CAAAAAAAAA-C
• MyVariant Identifiers: chr1:g.215814187_215814195del (hg19) ; chr1:g.215640845_215640853del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640854_215640862del , CM000663.2:g.215640854_215640862del	GRCh38
NC_000001.10:g.215814196_215814204del , CM000663.1:g.215814196_215814204del	GRCh37
NC_000001.9:g.213880819_213880827del	NCBI36
NG_009497.1:g.787544_787552del
NG_009497.2:g.787596_787604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-119_14792-111del MANE Select	ENSP00000305941.3:n.14792-119_14792-111del
ENST00000674083.1:c.14792-119_14792-111del	ENSP00000501296.1:n.14792-119_14792-111del
ENST00000307340.7:c.14792-119_14792-111del	ENSP00000305941.3:n.14792-119_14792-111del
NM_206933.2:c.14792-119_14792-111del	NP_996816.2:n.14792-119_14792-111del
NM_206933.3:c.14792-119_14792-111del	NP_996816.2:n.14792-119_14792-111del
NM_206933.4:c.14792-119_14792-111del MANE Select	NP_996816.3:n.14792-119_14792-111del