Canonical Allele Identifier: CA1260104142

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570713_71570715delinsATC , CM000664.2:g.71570713_71570715delinsATC	GRCh38
NC_000002.11:g.71797843_71797845delinsATC , CM000664.1:g.71797843_71797845delinsATC	GRCh37
NC_000002.10:g.71651351_71651353delinsATC	NCBI36
NG_008694.1:g.122091_122093delinsATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.572_574delinsATC	ENSP00000513536.1:p.Asp191=
ENST00000258104.8:c.3146_3148delinsATC MANE Plus Clinical	ENSP00000258104.3:p.Asp1049=
ENST00000410020.8:c.3200_3202delinsATC MANE Select	ENSP00000386881.3:p.Asp1067=
ENST00000258104.7:c.3146_3148delinsATC	ENSP00000258104.3:p.Asp1049=
ENST00000394120.6:c.3149_3151delinsATC	ENSP00000377678.2:p.Asp1050=
ENST00000409366.5:c.3149_3151delinsATC	ENSP00000386512.1:p.Asp1050=
ENST00000409582.7:c.3197_3199delinsATC	ENSP00000386547.3:p.Asp1066=
ENST00000409651.5:c.3242_3244delinsATC	ENSP00000386683.1:p.Asp1081=
ENST00000409744.5:c.3107_3109delinsATC	ENSP00000386285.1:p.Asp1036=
ENST00000409762.5:c.3197_3199delinsATC	ENSP00000387137.1:p.Asp1066=
ENST00000410020.7:c.3200_3202delinsATC	ENSP00000386881.3:p.Asp1067=
ENST00000410041.1:c.3200_3202delinsATC	ENSP00000386617.1:p.Asp1067=
ENST00000413539.6:c.3239_3241delinsATC	ENSP00000407046.2:p.Asp1080=
ENST00000429174.6:c.3146_3148delinsATC	ENSP00000398305.2:p.Asp1049=
ENST00000461565.1:n.312_314delinsATC
NM_001130455.1:c.3149_3151delinsATC	NP_001123927.1:p.Asp1050=
NM_001130976.1:c.3104_3106delinsATC	NP_001124448.1:p.Asp1035=
NM_001130977.1:c.3104_3106delinsATC	NP_001124449.1:p.Asp1035=
NM_001130978.1:c.3146_3148delinsATC	NP_001124450.1:p.Asp1049=
NM_001130979.1:c.3239_3241delinsATC	NP_001124451.1:p.Asp1080=
NM_001130980.1:c.3197_3199delinsATC	NP_001124452.1:p.Asp1066=
NM_001130981.1:c.3197_3199delinsATC	NP_001124453.1:p.Asp1066=
NM_001130982.1:c.3242_3244delinsATC	NP_001124454.1:p.Asp1081=
NM_001130983.1:c.3149_3151delinsATC	NP_001124455.1:p.Asp1050=
NM_001130984.1:c.3107_3109delinsATC	NP_001124456.1:p.Asp1036=
NM_001130985.1:c.3200_3202delinsATC	NP_001124457.1:p.Asp1067=
NM_001130986.1:c.3107_3109delinsATC	NP_001124458.1:p.Asp1036=
NM_001130987.1:c.3200_3202delinsATC	NP_001124459.1:p.Asp1067=
NM_003494.3:c.3146_3148delinsATC	NP_003485.1:p.Asp1049=
XM_005264584.3:c.3242_3244delinsATC	XP_005264641.1:p.Asp1081=
XM_005264585.3:c.3239_3241delinsATC	XP_005264642.1:p.Asp1080=
XM_005264584.4:c.3242_3244delinsATC	XP_005264641.1:p.Asp1081=
XM_005264585.5:c.3239_3241delinsATC	XP_005264642.1:p.Asp1080=
XR_001738969.1:n.3400_3402delinsATC
NM_001130987.2:c.3200_3202delinsATC MANE Select	NP_001124459.1:p.Asp1067=
NM_001130455.2:c.3149_3151delinsATC	NP_001123927.1:p.Asp1050=
NM_001130976.2:c.3104_3106delinsATC	NP_001124448.1:p.Asp1035=
NM_001130977.2:c.3104_3106delinsATC	NP_001124449.1:p.Asp1035=
NM_001130978.2:c.3146_3148delinsATC	NP_001124450.1:p.Asp1049=
NM_001130979.2:c.3239_3241delinsATC	NP_001124451.1:p.Asp1080=
NM_001130980.2:c.3197_3199delinsATC	NP_001124452.1:p.Asp1066=
NM_001130981.2:c.3197_3199delinsATC	NP_001124453.1:p.Asp1066=
NM_001130982.2:c.3242_3244delinsATC	NP_001124454.1:p.Asp1081=
NM_001130983.2:c.3149_3151delinsATC	NP_001124455.1:p.Asp1050=
NM_001130984.2:c.3107_3109delinsATC	NP_001124456.1:p.Asp1036=
NM_001130985.2:c.3200_3202delinsATC	NP_001124457.1:p.Asp1067=
NM_001130986.2:c.3107_3109delinsATC	NP_001124458.1:p.Asp1036=
NM_003494.4:c.3146_3148delinsATC MANE Plus Clinical	NP_003485.1:p.Asp1049=