Canonical Allele Identifier: CA2659549629

Gene: DYSF

Linked Data

• gnomAD v4: 2-71570609-T-TAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570611_71570613dup , CM000664.2:g.71570611_71570613dup	GRCh38
NC_000002.11:g.71797741_71797743dup , CM000664.1:g.71797741_71797743dup	GRCh37
NC_000002.10:g.71651249_71651251dup	NCBI36
NG_008694.1:g.121989_121991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.470_472dup	ENSP00000513536.1:p.Ser157_Ile158insSer
ENST00000258104.8:c.3044_3046dup MANE Plus Clinical	ENSP00000258104.3:p.Ser1015_Ile1016insSer
ENST00000410020.8:c.3098_3100dup MANE Select	ENSP00000386881.3:p.Ser1033_Ile1034insSer
ENST00000258104.7:c.3044_3046dup	ENSP00000258104.3:p.Ser1015_Ile1016insSer
ENST00000394120.6:c.3047_3049dup	ENSP00000377678.2:p.Ser1016_Ile1017insSer
ENST00000409366.5:c.3047_3049dup	ENSP00000386512.1:p.Ser1016_Ile1017insSer
ENST00000409582.7:c.3095_3097dup	ENSP00000386547.3:p.Ser1032_Ile1033insSer
ENST00000409651.5:c.3140_3142dup	ENSP00000386683.1:p.Ser1047_Ile1048insSer
ENST00000409744.5:c.3005_3007dup	ENSP00000386285.1:p.Ser1002_Ile1003insSer
ENST00000409762.5:c.3095_3097dup	ENSP00000387137.1:p.Ser1032_Ile1033insSer
ENST00000410020.7:c.3098_3100dup	ENSP00000386881.3:p.Ser1033_Ile1034insSer
ENST00000410041.1:c.3098_3100dup	ENSP00000386617.1:p.Ser1033_Ile1034insSer
ENST00000413539.6:c.3137_3139dup	ENSP00000407046.2:p.Ser1046_Ile1047insSer
ENST00000429174.6:c.3044_3046dup	ENSP00000398305.2:p.Ser1015_Ile1016insSer
ENST00000461565.1:n.210_212dup
NM_001130455.1:c.3047_3049dup	NP_001123927.1:p.Ser1016_Ile1017insSer
NM_001130976.1:c.3002_3004dup	NP_001124448.1:p.Ser1001_Ile1002insSer
NM_001130977.1:c.3002_3004dup	NP_001124449.1:p.Ser1001_Ile1002insSer
NM_001130978.1:c.3044_3046dup	NP_001124450.1:p.Ser1015_Ile1016insSer
NM_001130979.1:c.3137_3139dup	NP_001124451.1:p.Ser1046_Ile1047insSer
NM_001130980.1:c.3095_3097dup	NP_001124452.1:p.Ser1032_Ile1033insSer
NM_001130981.1:c.3095_3097dup	NP_001124453.1:p.Ser1032_Ile1033insSer
NM_001130982.1:c.3140_3142dup	NP_001124454.1:p.Ser1047_Ile1048insSer
NM_001130983.1:c.3047_3049dup	NP_001124455.1:p.Ser1016_Ile1017insSer
NM_001130984.1:c.3005_3007dup	NP_001124456.1:p.Ser1002_Ile1003insSer
NM_001130985.1:c.3098_3100dup	NP_001124457.1:p.Ser1033_Ile1034insSer
NM_001130986.1:c.3005_3007dup	NP_001124458.1:p.Ser1002_Ile1003insSer
NM_001130987.1:c.3098_3100dup	NP_001124459.1:p.Ser1033_Ile1034insSer
NM_003494.3:c.3044_3046dup	NP_003485.1:p.Ser1015_Ile1016insSer
XM_005264584.3:c.3140_3142dup	XP_005264641.1:p.Ser1047_Ile1048insSer
XM_005264585.3:c.3137_3139dup	XP_005264642.1:p.Ser1046_Ile1047insSer
XM_005264584.4:c.3140_3142dup	XP_005264641.1:p.Ser1047_Ile1048insSer
XM_005264585.5:c.3137_3139dup	XP_005264642.1:p.Ser1046_Ile1047insSer
XR_001738969.1:n.3298_3300dup
NM_001130987.2:c.3098_3100dup MANE Select	NP_001124459.1:p.Ser1033_Ile1034insSer
NM_001130455.2:c.3047_3049dup	NP_001123927.1:p.Ser1016_Ile1017insSer
NM_001130976.2:c.3002_3004dup	NP_001124448.1:p.Ser1001_Ile1002insSer
NM_001130977.2:c.3002_3004dup	NP_001124449.1:p.Ser1001_Ile1002insSer
NM_001130978.2:c.3044_3046dup	NP_001124450.1:p.Ser1015_Ile1016insSer
NM_001130979.2:c.3137_3139dup	NP_001124451.1:p.Ser1046_Ile1047insSer
NM_001130980.2:c.3095_3097dup	NP_001124452.1:p.Ser1032_Ile1033insSer
NM_001130981.2:c.3095_3097dup	NP_001124453.1:p.Ser1032_Ile1033insSer
NM_001130982.2:c.3140_3142dup	NP_001124454.1:p.Ser1047_Ile1048insSer
NM_001130983.2:c.3047_3049dup	NP_001124455.1:p.Ser1016_Ile1017insSer
NM_001130984.2:c.3005_3007dup	NP_001124456.1:p.Ser1002_Ile1003insSer
NM_001130985.2:c.3098_3100dup	NP_001124457.1:p.Ser1033_Ile1034insSer
NM_001130986.2:c.3005_3007dup	NP_001124458.1:p.Ser1002_Ile1003insSer
NM_003494.4:c.3044_3046dup MANE Plus Clinical	NP_003485.1:p.Ser1015_Ile1016insSer