Canonical Allele Identifier: CA2650500124

Gene: USH2A

Linked Data

• gnomAD v4: 1-215670830-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215670835del , CM000663.2:g.215670835del	GRCh38
NC_000001.10:g.215844177del , CM000663.1:g.215844177del	GRCh37
NC_000001.9:g.213910800del	NCBI36
NG_009497.1:g.757566del
NG_009497.2:g.757618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14133+141del MANE Select	ENSP00000305941.3:n.14133+141del
ENST00000674083.1:c.14133+141del	ENSP00000501296.1:n.14133+141del
ENST00000307340.7:c.14133+141del	ENSP00000305941.3:n.14133+141del
NM_206933.2:c.14133+141del	NP_996816.2:n.14133+141del
NM_206933.3:c.14133+141del	NP_996816.2:n.14133+141del
NM_206933.4:c.14133+141del MANE Select	NP_996816.3:n.14133+141del