Canonical Allele Identifier: CA2650501415

Gene: USH2A

Linked Data

• gnomAD v4: 1-216324158-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324159del , CM000663.2:g.216324159del	GRCh38
NC_000001.10:g.216497501del , CM000663.1:g.216497501del	GRCh37
NC_000001.9:g.214564124del	NCBI36
NG_009497.1:g.104238del
NG_009497.2:g.104290del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1328+9del MANE Select	ENSP00000305941.3:n.1328+9del
ENST00000674083.1:c.1328+9del	ENSP00000501296.1:n.1328+9del
ENST00000307340.7:c.1328+9del	ENSP00000305941.3:n.1328+9del
ENST00000366942.3:c.1328+9del	ENSP00000355909.3:n.1328+9del
NM_007123.5:c.1328+9del	NP_009054.5:n.1328+9del
NM_206933.2:c.1328+9del	NP_996816.2:n.1328+9del
NM_206933.3:c.1328+9del	NP_996816.2:n.1328+9del
NM_007123.6:c.1328+9del	NP_009054.6:n.1328+9del
NM_206933.4:c.1328+9del MANE Select	NP_996816.3:n.1328+9del