Canonical Allele Identifier: CA2547442282

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919360_74919366dup , CM000679.2:g.74919360_74919366dup	GRCh38
NC_000017.10:g.72915455_72915461dup , CM000679.1:g.72915455_72915461dup	GRCh37
NC_000017.9:g.70427050_70427056dup	NCBI36
NG_007882.1:g.8895_8901dup
NG_033062.1:g.86_92dup
NG_007882.2:g.8902_8908dup
NG_033062.2:g.86_92dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.1382+92_1382+98dup MANE Select	ENSP00000480279.1:n.1382+92_1382+98dup
ENST00000579243.1:c.*981+92_*981+98dup	ENSP00000462568.1:n.*981+92_*981+98dup
ENST00000614341.4:c.1382+92_1382+98dup	ENSP00000480279.1:n.1382+92_1382+98dup
NM_001282489.2:c.1073+92_1073+98dup	NP_001269418.1:n.1073+92_1073+98dup
NM_173477.4:c.1382+92_1382+98dup	NP_775748.2:n.1382+92_1382+98dup
XM_011524296.1:c.1073+92_1073+98dup	XP_011522598.1:n.1073+92_1073+98dup
XM_011524296.2:c.1073+92_1073+98dup	XP_011522598.1:n.1073+92_1073+98dup
NM_173477.5:c.1382+92_1382+98dup MANE Select	NP_775748.2:n.1382+92_1382+98dup
NM_001282489.3:c.1073+92_1073+98dup	NP_001269418.1:n.1073+92_1073+98dup