Canonical Allele Identifier: CA2695226989

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919541_74919550dup , CM000679.2:g.74919541_74919550dup	GRCh38
NC_000017.10:g.72915636_72915645dup , CM000679.1:g.72915636_72915645dup	GRCh37
NC_000017.9:g.70427231_70427240dup	NCBI36
NG_007882.1:g.8707_8716dup
NG_033062.1:g.267_276dup
NG_007882.2:g.8714_8723dup
NG_033062.2:g.267_276dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1286_1295dup MANE Select	ENSP00000480279.1:p.Leu433GlnfsTer?
ENST00000579243.1:c.*885_*894dup	ENSP00000462568.1:n.*885_*894dup
ENST00000614341.4:c.1286_1295dup	ENSP00000480279.1:p.Leu433GlnfsTer?
NM_001282489.2:c.977_986dup	NP_001269418.1:p.Leu330GlnfsTer?
NM_173477.4:c.1286_1295dup	NP_775748.2:p.Leu433GlnfsTer?
XM_011524296.1:c.977_986dup	XP_011522598.1:p.Leu330GlnfsTer?
XM_011524296.2:c.977_986dup	XP_011522598.1:p.Leu330GlnfsTer?
NM_173477.5:c.1286_1295dup MANE Select	NP_775748.2:p.Leu433GlnfsTer?
NM_001282489.3:c.977_986dup	NP_001269418.1:p.Leu330GlnfsTer?