Canonical Allele Identifier: CA1012185013

Gene: USH2A

Linked Data

• gnomAD v3: 1-215640837-ATCC-A
• gnomAD v4: 1-215640837-ATCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640838_215640840del , CM000663.2:g.215640838_215640840del	GRCh38
NC_000001.10:g.215814180_215814182del , CM000663.1:g.215814180_215814182del	GRCh37
NC_000001.9:g.213880803_213880805del	NCBI36
NG_009497.1:g.787557_787559del
NG_009497.2:g.787609_787611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-106_14792-104del MANE Select	ENSP00000305941.3:n.14792-106_14792-104del
ENST00000674083.1:c.14792-106_14792-104del	ENSP00000501296.1:n.14792-106_14792-104del
ENST00000307340.7:c.14792-106_14792-104del	ENSP00000305941.3:n.14792-106_14792-104del
NM_206933.2:c.14792-106_14792-104del	NP_996816.2:n.14792-106_14792-104del
NM_206933.3:c.14792-106_14792-104del	NP_996816.2:n.14792-106_14792-104del
NM_206933.4:c.14792-106_14792-104del MANE Select	NP_996816.3:n.14792-106_14792-104del