Canonical Allele Identifier: CA1260104078

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570620_71570621delinsTC , CM000664.2:g.71570620_71570621delinsTC	GRCh38
NC_000002.11:g.71797750_71797751delinsTC , CM000664.1:g.71797750_71797751delinsTC	GRCh37
NC_000002.10:g.71651258_71651259delinsTC	NCBI36
NG_008694.1:g.121998_121999delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.479_480delinsTC	ENSP00000513536.1:p.Ile160=
ENST00000258104.8:c.3053_3054delinsTC MANE Plus Clinical	ENSP00000258104.3:p.Ile1018=
ENST00000410020.8:c.3107_3108delinsTC MANE Select	ENSP00000386881.3:p.Ile1036=
ENST00000258104.7:c.3053_3054delinsTC	ENSP00000258104.3:p.Ile1018=
ENST00000394120.6:c.3056_3057delinsTC	ENSP00000377678.2:p.Ile1019=
ENST00000409366.5:c.3056_3057delinsTC	ENSP00000386512.1:p.Ile1019=
ENST00000409582.7:c.3104_3105delinsTC	ENSP00000386547.3:p.Ile1035=
ENST00000409651.5:c.3149_3150delinsTC	ENSP00000386683.1:p.Ile1050=
ENST00000409744.5:c.3014_3015delinsTC	ENSP00000386285.1:p.Ile1005=
ENST00000409762.5:c.3104_3105delinsTC	ENSP00000387137.1:p.Ile1035=
ENST00000410020.7:c.3107_3108delinsTC	ENSP00000386881.3:p.Ile1036=
ENST00000410041.1:c.3107_3108delinsTC	ENSP00000386617.1:p.Ile1036=
ENST00000413539.6:c.3146_3147delinsTC	ENSP00000407046.2:p.Ile1049=
ENST00000429174.6:c.3053_3054delinsTC	ENSP00000398305.2:p.Ile1018=
ENST00000461565.1:n.219_220delinsTC
NM_001130455.1:c.3056_3057delinsTC	NP_001123927.1:p.Ile1019=
NM_001130976.1:c.3011_3012delinsTC	NP_001124448.1:p.Ile1004=
NM_001130977.1:c.3011_3012delinsTC	NP_001124449.1:p.Ile1004=
NM_001130978.1:c.3053_3054delinsTC	NP_001124450.1:p.Ile1018=
NM_001130979.1:c.3146_3147delinsTC	NP_001124451.1:p.Ile1049=
NM_001130980.1:c.3104_3105delinsTC	NP_001124452.1:p.Ile1035=
NM_001130981.1:c.3104_3105delinsTC	NP_001124453.1:p.Ile1035=
NM_001130982.1:c.3149_3150delinsTC	NP_001124454.1:p.Ile1050=
NM_001130983.1:c.3056_3057delinsTC	NP_001124455.1:p.Ile1019=
NM_001130984.1:c.3014_3015delinsTC	NP_001124456.1:p.Ile1005=
NM_001130985.1:c.3107_3108delinsTC	NP_001124457.1:p.Ile1036=
NM_001130986.1:c.3014_3015delinsTC	NP_001124458.1:p.Ile1005=
NM_001130987.1:c.3107_3108delinsTC	NP_001124459.1:p.Ile1036=
NM_003494.3:c.3053_3054delinsTC	NP_003485.1:p.Ile1018=
XM_005264584.3:c.3149_3150delinsTC	XP_005264641.1:p.Ile1050=
XM_005264585.3:c.3146_3147delinsTC	XP_005264642.1:p.Ile1049=
XM_005264584.4:c.3149_3150delinsTC	XP_005264641.1:p.Ile1050=
XM_005264585.5:c.3146_3147delinsTC	XP_005264642.1:p.Ile1049=
XR_001738969.1:n.3307_3308delinsTC
NM_001130987.2:c.3107_3108delinsTC MANE Select	NP_001124459.1:p.Ile1036=
NM_001130455.2:c.3056_3057delinsTC	NP_001123927.1:p.Ile1019=
NM_001130976.2:c.3011_3012delinsTC	NP_001124448.1:p.Ile1004=
NM_001130977.2:c.3011_3012delinsTC	NP_001124449.1:p.Ile1004=
NM_001130978.2:c.3053_3054delinsTC	NP_001124450.1:p.Ile1018=
NM_001130979.2:c.3146_3147delinsTC	NP_001124451.1:p.Ile1049=
NM_001130980.2:c.3104_3105delinsTC	NP_001124452.1:p.Ile1035=
NM_001130981.2:c.3104_3105delinsTC	NP_001124453.1:p.Ile1035=
NM_001130982.2:c.3149_3150delinsTC	NP_001124454.1:p.Ile1050=
NM_001130983.2:c.3056_3057delinsTC	NP_001124455.1:p.Ile1019=
NM_001130984.2:c.3014_3015delinsTC	NP_001124456.1:p.Ile1005=
NM_001130985.2:c.3107_3108delinsTC	NP_001124457.1:p.Ile1036=
NM_001130986.2:c.3014_3015delinsTC	NP_001124458.1:p.Ile1005=
NM_003494.4:c.3053_3054delinsTC MANE Plus Clinical	NP_003485.1:p.Ile1018=