Canonical Allele Identifier: CA645598975

Gene: USH1G

Linked Data

• COSMIC: COSM4448682

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919665_74919667del , CM000679.2:g.74919665_74919667del	GRCh38
NC_000017.10:g.72915760_72915762del , CM000679.1:g.72915760_72915762del	GRCh37
NC_000017.9:g.70427355_70427357del	NCBI36
NG_007882.1:g.8590_8592del
NG_033062.1:g.391_393del
NG_007882.2:g.8597_8599del
NG_033062.2:g.391_393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1169_1171del MANE Select	ENSP00000480279.1:p.Ser390_Pro391delinsThr
ENST00000579243.1:c.*768_*770del	ENSP00000462568.1:n.*768_*770del
ENST00000614341.4:c.1169_1171del	ENSP00000480279.1:p.Ser390_Pro391delinsThr
NM_001282489.2:c.860_862del	NP_001269418.1:p.Ser287_Pro288delinsThr
NM_173477.4:c.1169_1171del	NP_775748.2:p.Ser390_Pro391delinsThr
XM_011524296.1:c.860_862del	XP_011522598.1:p.Ser287_Pro288delinsThr
XM_011524296.2:c.860_862del	XP_011522598.1:p.Ser287_Pro288delinsThr
NM_173477.5:c.1169_1171del MANE Select	NP_775748.2:p.Ser390_Pro391delinsThr
NM_001282489.3:c.860_862del	NP_001269418.1:p.Ser287_Pro288delinsThr