Canonical Allele Identifier: CA2650499670

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640857-A-AAAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640861_215640862insGAAAA , CM000663.2:g.215640861_215640862insGAAAA	GRCh38
NC_000001.10:g.215814203_215814204insGAAAA , CM000663.1:g.215814203_215814204insGAAAA	GRCh37
NC_000001.9:g.213880826_213880827insGAAAA	NCBI36
NG_009497.1:g.787539_787540insCTTTT
NG_009497.2:g.787591_787592insCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-124_14792-123insCTTTT MANE Select	ENSP00000305941.3:n.14792-124_14792-123insCTTTT
ENST00000674083.1:c.14792-124_14792-123insCTTTT	ENSP00000501296.1:n.14792-124_14792-123insCTTTT
ENST00000307340.7:c.14792-124_14792-123insCTTTT	ENSP00000305941.3:n.14792-124_14792-123insCTTTT
NM_206933.2:c.14792-124_14792-123insCTTTT	NP_996816.2:n.14792-124_14792-123insCTTTT
NM_206933.3:c.14792-124_14792-123insCTTTT	NP_996816.2:n.14792-124_14792-123insCTTTT
NM_206933.4:c.14792-124_14792-123insCTTTT MANE Select	NP_996816.3:n.14792-124_14792-123insCTTTT