Canonical Allele Identifier: CA1220426357

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799170_215799171delinsTA , CM000663.2:g.215799170_215799171delinsTA	GRCh38
NC_000001.10:g.215972512_215972513delinsTA , CM000663.1:g.215972512_215972513delinsTA	GRCh37
NC_000001.9:g.214039135_214039136delinsTA	NCBI36
NG_009497.1:g.629226_629227delinsTA
NG_009497.2:g.629278_629279delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-46_9740-45delinsTA MANE Select	ENSP00000305941.3:n.9740-46_9740-45delinsTA
ENST00000674083.1:c.9740-46_9740-45delinsTA	ENSP00000501296.1:n.9740-46_9740-45delinsTA
ENST00000307340.7:c.9740-46_9740-45delinsTA	ENSP00000305941.3:n.9740-46_9740-45delinsTA
NM_206933.2:c.9740-46_9740-45delinsTA	NP_996816.2:n.9740-46_9740-45delinsTA
NM_206933.3:c.9740-46_9740-45delinsTA	NP_996816.2:n.9740-46_9740-45delinsTA
NM_206933.4:c.9740-46_9740-45delinsTA MANE Select	NP_996816.3:n.9740-46_9740-45delinsTA