Canonical Allele Identifier: CA2639739250

Gene: USH1G

Linked Data

• gnomAD v4: 17-74916280-GGGTGGCCCCAGGCTCAGGCCCAGAGAACAGGGAGAAGAGCTGTGGTGGGCTCCAGATGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74916287_74916346del , CM000679.2:g.74916287_74916346del	GRCh38
NC_000017.10:g.72912379_72912438del , CM000679.1:g.72912379_72912438del	GRCh37
NC_000017.9:g.70423974_70424033del	NCBI36
NG_007882.1:g.11920_11979del
NG_007882.2:g.11924_11983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*1733_*1792del MANE Select	ENSP00000480279.1:n.*1733_*1792del
ENST00000614341.4:c.*1733_*1792del	ENSP00000480279.1:n.*1733_*1792del
NM_001282489.2:c.*1733_*1792del	NP_001269418.1:n.*1733_*1792del
NM_173477.4:c.*1733_*1792del	NP_775748.2:n.*1733_*1792del
XM_011524296.1:c.*1733_*1792del	XP_011522598.1:n.*1733_*1792del
XM_011524296.2:c.*1733_*1792del	XP_011522598.1:n.*1733_*1792del
NM_173477.5:c.*1733_*1792del MANE Select	NP_775748.2:n.*1733_*1792del
NM_001282489.3:c.*1733_*1792del	NP_001269418.1:n.*1733_*1792del