Canonical Allele Identifier: CA2639743257

Gene: USH1G

Linked Data

• gnomAD v4: 17-74917158-TCGCAGGACTTACCCACCCCAGGCCTGACACCCAGCCACACCCTGTTCTGCCTGTCCCAGGCCTGGGAGACTGAGGAGGTTGGCGGACACCTTTCTCTAGCCCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74917163_74917266del , CM000679.2:g.74917163_74917266del	GRCh38
NC_000017.10:g.72913257_72913360del , CM000679.1:g.72913257_72913360del	GRCh37
NC_000017.9:g.70424852_70424955del	NCBI36
NG_007882.1:g.10996_11099del
NG_007882.2:g.11002_11105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*811_*914del MANE Select	ENSP00000480279.1:n.*811_*914del
ENST00000614341.4:c.*811_*914del	ENSP00000480279.1:n.*811_*914del
NM_001282489.2:c.*811_*914del	NP_001269418.1:n.*811_*914del
NM_173477.4:c.*811_*914del	NP_775748.2:n.*811_*914del
XM_011524296.1:c.*811_*914del	XP_011522598.1:n.*811_*914del
XM_011524296.2:c.*811_*914del	XP_011522598.1:n.*811_*914del
NM_173477.5:c.*811_*914del MANE Select	NP_775748.2:n.*811_*914del
NM_001282489.3:c.*811_*914del	NP_001269418.1:n.*811_*914del