Canonical Allele Identifier: CA2650527157

Gene: USH2A

Linked Data

• gnomAD v4: 1-215782331-T-TTGAGACAGCAATATAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782331_215782332insTGAGACAGCAATATAATA , CM000663.2:g.215782331_215782332insTGAGACAGCAATATAATA	GRCh38
NC_000001.10:g.215955673_215955674insTGAGACAGCAATATAATA , CM000663.1:g.215955673_215955674insTGAGACAGCAATATAATA	GRCh37
NC_000001.9:g.214022296_214022297insTGAGACAGCAATATAATA	NCBI36
NG_009497.1:g.646065_646066insTATTATATTGCTGTCTCA
NG_009497.2:g.646117_646118insTATTATATTGCTGTCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-136_10586-135insTATTATATTGCTGTCTCA MANE Select	ENSP00000305941.3:n.10586-136_10586-135insTATTATATTGCTGTCTCA
ENST00000674083.1:c.10586-136_10586-135insTATTATATTGCTGTCTCA	ENSP00000501296.1:n.10586-136_10586-135insTATTATATTGCTGTCTCA
ENST00000307340.7:c.10586-136_10586-135insTATTATATTGCTGTCTCA	ENSP00000305941.3:n.10586-136_10586-135insTATTATATTGCTGTCTCA
NM_206933.2:c.10586-136_10586-135insTATTATATTGCTGTCTCA	NP_996816.2:n.10586-136_10586-135insTATTATATTGCTGTCTCA
NM_206933.3:c.10586-136_10586-135insTATTATATTGCTGTCTCA	NP_996816.2:n.10586-136_10586-135insTATTATATTGCTGTCTCA
NM_206933.4:c.10586-136_10586-135insTATTATATTGCTGTCTCA MANE Select	NP_996816.3:n.10586-136_10586-135insTATTATATTGCTGTCTCA