Canonical Allele Identifier: CA2275255446

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920116_74920118delinsGCT , CM000679.2:g.74920116_74920118delinsGCT	GRCh38
NC_000017.10:g.72916211_72916213delinsGCT , CM000679.1:g.72916211_72916213delinsGCT	GRCh37
NC_000017.9:g.70427806_70427808delinsGCT	NCBI36
NG_007882.1:g.8139_8141delinsAGC
NG_033062.1:g.842_844delinsGCT
NG_007882.2:g.8146_8148delinsAGC
NG_033062.2:g.842_844delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.718_720delinsAGC MANE Select	ENSP00000480279.1:p.Ser240=
ENST00000579243.1:c.*317_*319delinsAGC	ENSP00000462568.1:n.*317_*319delinsAGC
ENST00000614341.4:c.718_720delinsAGC	ENSP00000480279.1:p.Ser240=
NM_001282489.2:c.409_411delinsAGC	NP_001269418.1:p.Ser137=
NM_173477.4:c.718_720delinsAGC	NP_775748.2:p.Ser240=
XM_011524296.1:c.409_411delinsAGC	XP_011522598.1:p.Ser137=
XM_011524296.2:c.409_411delinsAGC	XP_011522598.1:p.Ser137=
NM_173477.5:c.718_720delinsAGC MANE Select	NP_775748.2:p.Ser240=
NM_001282489.3:c.409_411delinsAGC	NP_001269418.1:p.Ser137=