Canonical Allele Identifier: CA2747722589

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817295_215817296insGTC , CM000663.2:g.215817295_215817296insGTC	GRCh38
NC_000001.10:g.215990637_215990638insGTC , CM000663.1:g.215990637_215990638insGTC	GRCh37
NC_000001.9:g.214057260_214057261insGTC	NCBI36
NG_009497.1:g.611101_611102insGAC
NG_009497.2:g.611153_611154insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-101_9372-100insGAC MANE Select	ENSP00000305941.3:n.9372-101_9372-100insGAC
ENST00000674083.1:c.9372-101_9372-100insGAC	ENSP00000501296.1:n.9372-101_9372-100insGAC
ENST00000307340.7:c.9372-101_9372-100insGAC	ENSP00000305941.3:n.9372-101_9372-100insGAC
NM_206933.2:c.9372-101_9372-100insGAC	NP_996816.2:n.9372-101_9372-100insGAC
NM_206933.3:c.9372-101_9372-100insGAC	NP_996816.2:n.9372-101_9372-100insGAC
NM_206933.4:c.9372-101_9372-100insGAC MANE Select	NP_996816.3:n.9372-101_9372-100insGAC