Canonical Allele Identifier: CA916563878

Gene: DYSF

Linked Data

• dbSNP Id: rs1559186556

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570728_71570729insGG , CM000664.2:g.71570728_71570729insGG	GRCh38
NC_000002.11:g.71797858_71797859insGG , CM000664.1:g.71797858_71797859insGG	GRCh37
NC_000002.10:g.71651366_71651367insGG	NCBI36
NG_008694.1:g.122106_122107insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.587_588insGG	ENSP00000513536.1:p.Ala197GlufsTer3
ENST00000258104.8:c.3161_3162insGG MANE Plus Clinical	ENSP00000258104.3:p.Ala1055GlufsTer3
ENST00000410020.8:c.3215_3216insGG MANE Select	ENSP00000386881.3:p.Ala1073GlufsTer3
ENST00000258104.7:c.3161_3162insGG	ENSP00000258104.3:p.Ala1055GlufsTer3
ENST00000394120.6:c.3164_3165insGG	ENSP00000377678.2:p.Ala1056GlufsTer3
ENST00000409366.5:c.3164_3165insGG	ENSP00000386512.1:p.Ala1056GlufsTer3
ENST00000409582.7:c.3212_3213insGG	ENSP00000386547.3:p.Ala1072GlufsTer3
ENST00000409651.5:c.3257_3258insGG	ENSP00000386683.1:p.Ala1087GlufsTer3
ENST00000409744.5:c.3122_3123insGG	ENSP00000386285.1:p.Ala1042GlufsTer3
ENST00000409762.5:c.3212_3213insGG	ENSP00000387137.1:p.Ala1072GlufsTer3
ENST00000410020.7:c.3215_3216insGG	ENSP00000386881.3:p.Ala1073GlufsTer3
ENST00000410041.1:c.3215_3216insGG	ENSP00000386617.1:p.Ala1073GlufsTer3
ENST00000413539.6:c.3254_3255insGG	ENSP00000407046.2:p.Ala1086GlufsTer3
ENST00000429174.6:c.3161_3162insGG	ENSP00000398305.2:p.Ala1055GlufsTer3
ENST00000461565.1:n.327_328insGG
NM_001130455.1:c.3164_3165insGG	NP_001123927.1:p.Ala1056GlufsTer3
NM_001130976.1:c.3119_3120insGG	NP_001124448.1:p.Ala1041GlufsTer3
NM_001130977.1:c.3119_3120insGG	NP_001124449.1:p.Ala1041GlufsTer3
NM_001130978.1:c.3161_3162insGG	NP_001124450.1:p.Ala1055GlufsTer3
NM_001130979.1:c.3254_3255insGG	NP_001124451.1:p.Ala1086GlufsTer3
NM_001130980.1:c.3212_3213insGG	NP_001124452.1:p.Ala1072GlufsTer3
NM_001130981.1:c.3212_3213insGG	NP_001124453.1:p.Ala1072GlufsTer3
NM_001130982.1:c.3257_3258insGG	NP_001124454.1:p.Ala1087GlufsTer3
NM_001130983.1:c.3164_3165insGG	NP_001124455.1:p.Ala1056GlufsTer3
NM_001130984.1:c.3122_3123insGG	NP_001124456.1:p.Ala1042GlufsTer3
NM_001130985.1:c.3215_3216insGG	NP_001124457.1:p.Ala1073GlufsTer3
NM_001130986.1:c.3122_3123insGG	NP_001124458.1:p.Ala1042GlufsTer3
NM_001130987.1:c.3215_3216insGG	NP_001124459.1:p.Ala1073GlufsTer3
NM_003494.3:c.3161_3162insGG	NP_003485.1:p.Ala1055GlufsTer3
XM_005264584.3:c.3257_3258insGG	XP_005264641.1:p.Ala1087GlufsTer3
XM_005264585.3:c.3254_3255insGG	XP_005264642.1:p.Ala1086GlufsTer3
XM_005264584.4:c.3257_3258insGG	XP_005264641.1:p.Ala1087GlufsTer3
XM_005264585.5:c.3254_3255insGG	XP_005264642.1:p.Ala1086GlufsTer3
XR_001738969.1:n.3415_3416insGG
NM_001130987.2:c.3215_3216insGG MANE Select	NP_001124459.1:p.Ala1073GlufsTer3
NM_001130455.2:c.3164_3165insGG	NP_001123927.1:p.Ala1056GlufsTer3
NM_001130976.2:c.3119_3120insGG	NP_001124448.1:p.Ala1041GlufsTer3
NM_001130977.2:c.3119_3120insGG	NP_001124449.1:p.Ala1041GlufsTer3
NM_001130978.2:c.3161_3162insGG	NP_001124450.1:p.Ala1055GlufsTer3
NM_001130979.2:c.3254_3255insGG	NP_001124451.1:p.Ala1086GlufsTer3
NM_001130980.2:c.3212_3213insGG	NP_001124452.1:p.Ala1072GlufsTer3
NM_001130981.2:c.3212_3213insGG	NP_001124453.1:p.Ala1072GlufsTer3
NM_001130982.2:c.3257_3258insGG	NP_001124454.1:p.Ala1087GlufsTer3
NM_001130983.2:c.3164_3165insGG	NP_001124455.1:p.Ala1056GlufsTer3
NM_001130984.2:c.3122_3123insGG	NP_001124456.1:p.Ala1042GlufsTer3
NM_001130985.2:c.3215_3216insGG	NP_001124457.1:p.Ala1073GlufsTer3
NM_001130986.2:c.3122_3123insGG	NP_001124458.1:p.Ala1042GlufsTer3
NM_003494.4:c.3161_3162insGG MANE Plus Clinical	NP_003485.1:p.Ala1055GlufsTer3