Canonical Allele Identifier: CA916563879

Gene: DYSF

Linked Data

• dbSNP Id: rs1559186623

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570730_71570731insGACGTATGTTGT , CM000664.2:g.71570730_71570731insGACGTATGTTGT	GRCh38
NC_000002.11:g.71797860_71797861insGACGTATGTTGT , CM000664.1:g.71797860_71797861insGACGTATGTTGT	GRCh37
NC_000002.10:g.71651368_71651369insGACGTATGTTGT	NCBI36
NG_008694.1:g.122108_122109insGACGTATGTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.589_590insGACGTATGTTGT	ENSP00000513536.1:p.Ala197delinsGlyArgMetLeuSer
ENST00000258104.8:c.3163_3164insGACGTATGTTGT MANE Plus Clinical	ENSP00000258104.3:p.Ala1055delinsGlyArgMetLeuSer
ENST00000410020.8:c.3217_3218insGACGTATGTTGT MANE Select	ENSP00000386881.3:p.Ala1073delinsGlyArgMetLeuSer
ENST00000258104.7:c.3163_3164insGACGTATGTTGT	ENSP00000258104.3:p.Ala1055delinsGlyArgMetLeuSer
ENST00000394120.6:c.3166_3167insGACGTATGTTGT	ENSP00000377678.2:p.Ala1056delinsGlyArgMetLeuSer
ENST00000409366.5:c.3166_3167insGACGTATGTTGT	ENSP00000386512.1:p.Ala1056delinsGlyArgMetLeuSer
ENST00000409582.7:c.3214_3215insGACGTATGTTGT	ENSP00000386547.3:p.Ala1072delinsGlyArgMetLeuSer
ENST00000409651.5:c.3259_3260insGACGTATGTTGT	ENSP00000386683.1:p.Ala1087delinsGlyArgMetLeuSer
ENST00000409744.5:c.3124_3125insGACGTATGTTGT	ENSP00000386285.1:p.Ala1042delinsGlyArgMetLeuSer
ENST00000409762.5:c.3214_3215insGACGTATGTTGT	ENSP00000387137.1:p.Ala1072delinsGlyArgMetLeuSer
ENST00000410020.7:c.3217_3218insGACGTATGTTGT	ENSP00000386881.3:p.Ala1073delinsGlyArgMetLeuSer
ENST00000410041.1:c.3217_3218insGACGTATGTTGT	ENSP00000386617.1:p.Ala1073delinsGlyArgMetLeuSer
ENST00000413539.6:c.3256_3257insGACGTATGTTGT	ENSP00000407046.2:p.Ala1086delinsGlyArgMetLeuSer
ENST00000429174.6:c.3163_3164insGACGTATGTTGT	ENSP00000398305.2:p.Ala1055delinsGlyArgMetLeuSer
ENST00000461565.1:n.329_330insGACGTATGTTGT
NM_001130455.1:c.3166_3167insGACGTATGTTGT	NP_001123927.1:p.Ala1056delinsGlyArgMetLeuSer
NM_001130976.1:c.3121_3122insGACGTATGTTGT	NP_001124448.1:p.Ala1041delinsGlyArgMetLeuSer
NM_001130977.1:c.3121_3122insGACGTATGTTGT	NP_001124449.1:p.Ala1041delinsGlyArgMetLeuSer
NM_001130978.1:c.3163_3164insGACGTATGTTGT	NP_001124450.1:p.Ala1055delinsGlyArgMetLeuSer
NM_001130979.1:c.3256_3257insGACGTATGTTGT	NP_001124451.1:p.Ala1086delinsGlyArgMetLeuSer
NM_001130980.1:c.3214_3215insGACGTATGTTGT	NP_001124452.1:p.Ala1072delinsGlyArgMetLeuSer
NM_001130981.1:c.3214_3215insGACGTATGTTGT	NP_001124453.1:p.Ala1072delinsGlyArgMetLeuSer
NM_001130982.1:c.3259_3260insGACGTATGTTGT	NP_001124454.1:p.Ala1087delinsGlyArgMetLeuSer
NM_001130983.1:c.3166_3167insGACGTATGTTGT	NP_001124455.1:p.Ala1056delinsGlyArgMetLeuSer
NM_001130984.1:c.3124_3125insGACGTATGTTGT	NP_001124456.1:p.Ala1042delinsGlyArgMetLeuSer
NM_001130985.1:c.3217_3218insGACGTATGTTGT	NP_001124457.1:p.Ala1073delinsGlyArgMetLeuSer
NM_001130986.1:c.3124_3125insGACGTATGTTGT	NP_001124458.1:p.Ala1042delinsGlyArgMetLeuSer
NM_001130987.1:c.3217_3218insGACGTATGTTGT	NP_001124459.1:p.Ala1073delinsGlyArgMetLeuSer
NM_003494.3:c.3163_3164insGACGTATGTTGT	NP_003485.1:p.Ala1055delinsGlyArgMetLeuSer
XM_005264584.3:c.3259_3260insGACGTATGTTGT	XP_005264641.1:p.Ala1087delinsGlyArgMetLeuSer
XM_005264585.3:c.3256_3257insGACGTATGTTGT	XP_005264642.1:p.Ala1086delinsGlyArgMetLeuSer
XM_005264584.4:c.3259_3260insGACGTATGTTGT	XP_005264641.1:p.Ala1087delinsGlyArgMetLeuSer
XM_005264585.5:c.3256_3257insGACGTATGTTGT	XP_005264642.1:p.Ala1086delinsGlyArgMetLeuSer
XR_001738969.1:n.3417_3418insGACGTATGTTGT
NM_001130987.2:c.3217_3218insGACGTATGTTGT MANE Select	NP_001124459.1:p.Ala1073delinsGlyArgMetLeuSer
NM_001130455.2:c.3166_3167insGACGTATGTTGT	NP_001123927.1:p.Ala1056delinsGlyArgMetLeuSer
NM_001130976.2:c.3121_3122insGACGTATGTTGT	NP_001124448.1:p.Ala1041delinsGlyArgMetLeuSer
NM_001130977.2:c.3121_3122insGACGTATGTTGT	NP_001124449.1:p.Ala1041delinsGlyArgMetLeuSer
NM_001130978.2:c.3163_3164insGACGTATGTTGT	NP_001124450.1:p.Ala1055delinsGlyArgMetLeuSer
NM_001130979.2:c.3256_3257insGACGTATGTTGT	NP_001124451.1:p.Ala1086delinsGlyArgMetLeuSer
NM_001130980.2:c.3214_3215insGACGTATGTTGT	NP_001124452.1:p.Ala1072delinsGlyArgMetLeuSer
NM_001130981.2:c.3214_3215insGACGTATGTTGT	NP_001124453.1:p.Ala1072delinsGlyArgMetLeuSer
NM_001130982.2:c.3259_3260insGACGTATGTTGT	NP_001124454.1:p.Ala1087delinsGlyArgMetLeuSer
NM_001130983.2:c.3166_3167insGACGTATGTTGT	NP_001124455.1:p.Ala1056delinsGlyArgMetLeuSer
NM_001130984.2:c.3124_3125insGACGTATGTTGT	NP_001124456.1:p.Ala1042delinsGlyArgMetLeuSer
NM_001130985.2:c.3217_3218insGACGTATGTTGT	NP_001124457.1:p.Ala1073delinsGlyArgMetLeuSer
NM_001130986.2:c.3124_3125insGACGTATGTTGT	NP_001124458.1:p.Ala1042delinsGlyArgMetLeuSer
NM_003494.4:c.3163_3164insGACGTATGTTGT MANE Plus Clinical	NP_003485.1:p.Ala1055delinsGlyArgMetLeuSer