Canonical Allele Identifier: CA1220619006

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246466_216246469delinsCAGT , CM000663.2:g.216246466_216246469delinsCAGT	GRCh38
NC_000001.10:g.216419808_216419811delinsCAGT , CM000663.1:g.216419808_216419811delinsCAGT	GRCh37
NC_000001.9:g.214486431_214486434delinsCAGT	NCBI36
NG_009497.1:g.181928_181931delinsACTG
NG_009497.2:g.181980_181983delinsACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2809+116_2809+119delinsACTG MANE Select	ENSP00000305941.3:n.2809+116_2809+119delinsACTG
ENST00000674083.1:c.2809+116_2809+119delinsACTG	ENSP00000501296.1:n.2809+116_2809+119delinsACTG
ENST00000307340.7:c.2809+116_2809+119delinsACTG	ENSP00000305941.3:n.2809+116_2809+119delinsACTG
ENST00000366942.3:c.2809+116_2809+119delinsACTG	ENSP00000355909.3:n.2809+116_2809+119delinsACTG
NM_007123.5:c.2809+116_2809+119delinsACTG	NP_009054.5:n.2809+116_2809+119delinsACTG
NM_206933.2:c.2809+116_2809+119delinsACTG	NP_996816.2:n.2809+116_2809+119delinsACTG
NM_206933.3:c.2809+116_2809+119delinsACTG	NP_996816.2:n.2809+116_2809+119delinsACTG
NM_007123.6:c.2809+116_2809+119delinsACTG	NP_009054.6:n.2809+116_2809+119delinsACTG
NM_206933.4:c.2809+116_2809+119delinsACTG MANE Select	NP_996816.3:n.2809+116_2809+119delinsACTG