Canonical Allele Identifier: CA2747722594

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817305_215817306insCTT , CM000663.2:g.215817305_215817306insCTT	GRCh38
NC_000001.10:g.215990647_215990648insCTT , CM000663.1:g.215990647_215990648insCTT	GRCh37
NC_000001.9:g.214057270_214057271insCTT	NCBI36
NG_009497.1:g.611091_611092insAAG
NG_009497.2:g.611143_611144insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-111_9372-110insAAG MANE Select	ENSP00000305941.3:n.9372-111_9372-110insAAG
ENST00000674083.1:c.9372-111_9372-110insAAG	ENSP00000501296.1:n.9372-111_9372-110insAAG
ENST00000307340.7:c.9372-111_9372-110insAAG	ENSP00000305941.3:n.9372-111_9372-110insAAG
NM_206933.2:c.9372-111_9372-110insAAG	NP_996816.2:n.9372-111_9372-110insAAG
NM_206933.3:c.9372-111_9372-110insAAG	NP_996816.2:n.9372-111_9372-110insAAG
NM_206933.4:c.9372-111_9372-110insAAG MANE Select	NP_996816.3:n.9372-111_9372-110insAAG