Canonical Allele Identifier: CA2650501212

Gene: USH2A

Linked Data

• gnomAD v4: 1-215680276-CAAGGGCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680279_215680286del , CM000663.2:g.215680279_215680286del	GRCh38
NC_000001.10:g.215853621_215853628del , CM000663.1:g.215853621_215853628del	GRCh37
NC_000001.9:g.213920244_213920251del	NCBI36
NG_009497.1:g.748113_748120del
NG_009497.2:g.748165_748172del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.12159_12166del MANE Select	ENSP00000305941.3:p.Ser4054AspfsTer?
ENST00000674083.1:c.12159_12166del	ENSP00000501296.1:p.Ser4054AspfsTer?
ENST00000307340.7:c.12159_12166del	ENSP00000305941.3:p.Ser4054AspfsTer?
NM_206933.2:c.12159_12166del	NP_996816.2:p.Ser4054AspfsTer?
NM_206933.3:c.12159_12166del	NP_996816.2:p.Ser4054AspfsTer?
NM_206933.4:c.12159_12166del MANE Select	NP_996816.3:p.Ser4054AspfsTer?