Canonical Allele Identifier: CA2576383327

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919661-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919663_74919664del , CM000679.2:g.74919663_74919664del	GRCh38
NC_000017.10:g.72915758_72915759del , CM000679.1:g.72915758_72915759del	GRCh37
NC_000017.9:g.70427353_70427354del	NCBI36
NG_007882.1:g.8594_8595del
NG_033062.1:g.389_390del
NG_007882.2:g.8601_8602del
NG_033062.2:g.389_390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1173_1174del MANE Select	ENSP00000480279.1:p.Leu392GlyfsTer?
ENST00000579243.1:c.*772_*773del	ENSP00000462568.1:n.*772_*773del
ENST00000614341.4:c.1173_1174del	ENSP00000480279.1:p.Leu392GlyfsTer?
NM_001282489.2:c.864_865del	NP_001269418.1:p.Leu289GlyfsTer?
NM_173477.4:c.1173_1174del	NP_775748.2:p.Leu392GlyfsTer?
XM_011524296.1:c.864_865del	XP_011522598.1:p.Leu289GlyfsTer?
XM_011524296.2:c.864_865del	XP_011522598.1:p.Leu289GlyfsTer?
NM_173477.5:c.1173_1174del MANE Select	NP_775748.2:p.Leu392GlyfsTer?
NM_001282489.3:c.864_865del	NP_001269418.1:p.Leu289GlyfsTer?