Canonical Allele Identifier: CA2659549635

Gene: DYSF

Linked Data

• gnomAD v4: 2-71570683-GGCGGCGCTGGGTGCGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570687_71570704del , CM000664.2:g.71570687_71570704del	GRCh38
NC_000002.11:g.71797817_71797834del , CM000664.1:g.71797817_71797834del	GRCh37
NC_000002.10:g.71651325_71651342del	NCBI36
NG_008694.1:g.122065_122082del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.546_563del	ENSP00000513536.1:p.Arg183_Arg188del
ENST00000258104.8:c.3120_3137del MANE Plus Clinical	ENSP00000258104.3:p.Arg1041_Arg1046del
ENST00000410020.8:c.3174_3191del MANE Select	ENSP00000386881.3:p.Arg1059_Arg1064del
ENST00000258104.7:c.3120_3137del	ENSP00000258104.3:p.Arg1041_Arg1046del
ENST00000394120.6:c.3123_3140del	ENSP00000377678.2:p.Arg1042_Arg1047del
ENST00000409366.5:c.3123_3140del	ENSP00000386512.1:p.Arg1042_Arg1047del
ENST00000409582.7:c.3171_3188del	ENSP00000386547.3:p.Arg1058_Arg1063del
ENST00000409651.5:c.3216_3233del	ENSP00000386683.1:p.Arg1073_Arg1078del
ENST00000409744.5:c.3081_3098del	ENSP00000386285.1:p.Arg1028_Arg1033del
ENST00000409762.5:c.3171_3188del	ENSP00000387137.1:p.Arg1058_Arg1063del
ENST00000410020.7:c.3174_3191del	ENSP00000386881.3:p.Arg1059_Arg1064del
ENST00000410041.1:c.3174_3191del	ENSP00000386617.1:p.Arg1059_Arg1064del
ENST00000413539.6:c.3213_3230del	ENSP00000407046.2:p.Arg1072_Arg1077del
ENST00000429174.6:c.3120_3137del	ENSP00000398305.2:p.Arg1041_Arg1046del
ENST00000461565.1:n.286_303del
NM_001130455.1:c.3123_3140del	NP_001123927.1:p.Arg1042_Arg1047del
NM_001130976.1:c.3078_3095del	NP_001124448.1:p.Arg1027_Arg1032del
NM_001130977.1:c.3078_3095del	NP_001124449.1:p.Arg1027_Arg1032del
NM_001130978.1:c.3120_3137del	NP_001124450.1:p.Arg1041_Arg1046del
NM_001130979.1:c.3213_3230del	NP_001124451.1:p.Arg1072_Arg1077del
NM_001130980.1:c.3171_3188del	NP_001124452.1:p.Arg1058_Arg1063del
NM_001130981.1:c.3171_3188del	NP_001124453.1:p.Arg1058_Arg1063del
NM_001130982.1:c.3216_3233del	NP_001124454.1:p.Arg1073_Arg1078del
NM_001130983.1:c.3123_3140del	NP_001124455.1:p.Arg1042_Arg1047del
NM_001130984.1:c.3081_3098del	NP_001124456.1:p.Arg1028_Arg1033del
NM_001130985.1:c.3174_3191del	NP_001124457.1:p.Arg1059_Arg1064del
NM_001130986.1:c.3081_3098del	NP_001124458.1:p.Arg1028_Arg1033del
NM_001130987.1:c.3174_3191del	NP_001124459.1:p.Arg1059_Arg1064del
NM_003494.3:c.3120_3137del	NP_003485.1:p.Arg1041_Arg1046del
XM_005264584.3:c.3216_3233del	XP_005264641.1:p.Arg1073_Arg1078del
XM_005264585.3:c.3213_3230del	XP_005264642.1:p.Arg1072_Arg1077del
XM_005264584.4:c.3216_3233del	XP_005264641.1:p.Arg1073_Arg1078del
XM_005264585.5:c.3213_3230del	XP_005264642.1:p.Arg1072_Arg1077del
XR_001738969.1:n.3374_3391del
NM_001130987.2:c.3174_3191del MANE Select	NP_001124459.1:p.Arg1059_Arg1064del
NM_001130455.2:c.3123_3140del	NP_001123927.1:p.Arg1042_Arg1047del
NM_001130976.2:c.3078_3095del	NP_001124448.1:p.Arg1027_Arg1032del
NM_001130977.2:c.3078_3095del	NP_001124449.1:p.Arg1027_Arg1032del
NM_001130978.2:c.3120_3137del	NP_001124450.1:p.Arg1041_Arg1046del
NM_001130979.2:c.3213_3230del	NP_001124451.1:p.Arg1072_Arg1077del
NM_001130980.2:c.3171_3188del	NP_001124452.1:p.Arg1058_Arg1063del
NM_001130981.2:c.3171_3188del	NP_001124453.1:p.Arg1058_Arg1063del
NM_001130982.2:c.3216_3233del	NP_001124454.1:p.Arg1073_Arg1078del
NM_001130983.2:c.3123_3140del	NP_001124455.1:p.Arg1042_Arg1047del
NM_001130984.2:c.3081_3098del	NP_001124456.1:p.Arg1028_Arg1033del
NM_001130985.2:c.3174_3191del	NP_001124457.1:p.Arg1059_Arg1064del
NM_001130986.2:c.3081_3098del	NP_001124458.1:p.Arg1028_Arg1033del
NM_003494.4:c.3120_3137del MANE Plus Clinical	NP_003485.1:p.Arg1041_Arg1046del