Canonical Allele Identifier: CA2576121644

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920218_74920222dup , CM000679.2:g.74920218_74920222dup	GRCh38
NC_000017.10:g.72916313_72916317dup , CM000679.1:g.72916313_72916317dup	GRCh37
NC_000017.9:g.70427908_70427912dup	NCBI36
NG_007882.1:g.8036_8040dup
NG_033062.1:g.944_948dup
NG_007882.2:g.8043_8047dup
NG_033062.2:g.944_948dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.615_619dup MANE Select	ENSP00000480279.1:p.His207ArgfsTer?
ENST00000579243.1:c.*214_*218dup	ENSP00000462568.1:n.*214_*218dup
ENST00000614341.4:c.615_619dup	ENSP00000480279.1:p.His207ArgfsTer?
NM_001282489.2:c.306_310dup	NP_001269418.1:p.His104ArgfsTer?
NM_173477.4:c.615_619dup	NP_775748.2:p.His207ArgfsTer?
XM_011524296.1:c.306_310dup	XP_011522598.1:p.His104ArgfsTer?
XM_011524296.2:c.306_310dup	XP_011522598.1:p.His104ArgfsTer?
NM_173477.5:c.615_619dup MANE Select	NP_775748.2:p.His207ArgfsTer?
NM_001282489.3:c.306_310dup	NP_001269418.1:p.His104ArgfsTer?