Canonical Allele Identifier: CA8754032

Gene: USH1G

Linked Data

• dbSNP Id: rs770350814
• ExAC: 17:72916295 G / GC
• gnomAD v2: 17-72916295-G-GC
• gnomAD v4: 17-74920200-G-GC
• MyVariant Identifiers: chr17:g.72916295_72916296insC (hg19) ; chr17:g.74920200_74920201insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920204dup , CM000679.2:g.74920204dup	GRCh38
NC_000017.10:g.72916299dup , CM000679.1:g.72916299dup	GRCh37
NC_000017.9:g.70427894dup	NCBI36
NG_007882.1:g.8056dup
NG_033062.1:g.930dup
NG_007882.2:g.8063dup
NG_033062.2:g.930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.635dup MANE Select	ENSP00000480279.1:p.Lys213GlnfsTer?
ENST00000579243.1:c.*234dup	ENSP00000462568.1:n.*234dup
ENST00000614341.4:c.635dup	ENSP00000480279.1:p.Lys213GlnfsTer?
NM_001282489.2:c.326dup	NP_001269418.1:p.Lys110GlnfsTer?
NM_173477.4:c.635dup	NP_775748.2:p.Lys213GlnfsTer?
XM_011524296.1:c.326dup	XP_011522598.1:p.Lys110GlnfsTer?
XM_011524296.2:c.326dup	XP_011522598.1:p.Lys110GlnfsTer?
NM_173477.5:c.635dup MANE Select	NP_775748.2:p.Lys213GlnfsTer?
NM_001282489.3:c.326dup	NP_001269418.1:p.Lys110GlnfsTer?