Canonical Allele Identifier: CA1260078939

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71517035_71517036delinsTC , CM000664.2:g.71517035_71517036delinsTC	GRCh38
NC_000002.11:g.71744165_71744166delinsTC , CM000664.1:g.71744165_71744166delinsTC	GRCh37
NC_000002.10:g.71597673_71597674delinsTC	NCBI36
NG_008694.1:g.68413_68414delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.902_903delinsTC MANE Plus Clinical	ENSP00000258104.3:p.Phe301=
ENST00000410020.8:c.998_999delinsTC MANE Select	ENSP00000386881.3:p.Phe333=
ENST00000258104.7:c.902_903delinsTC	ENSP00000258104.3:p.Phe301=
ENST00000394120.6:c.905_906delinsTC	ENSP00000377678.2:p.Phe302=
ENST00000409366.5:c.905_906delinsTC	ENSP00000386512.1:p.Phe302=
ENST00000409582.7:c.995_996delinsTC	ENSP00000386547.3:p.Phe332=
ENST00000409651.5:c.998_999delinsTC	ENSP00000386683.1:p.Phe333=
ENST00000409744.5:c.905_906delinsTC	ENSP00000386285.1:p.Phe302=
ENST00000409762.5:c.995_996delinsTC	ENSP00000387137.1:p.Phe332=
ENST00000410020.7:c.998_999delinsTC	ENSP00000386881.3:p.Phe333=
ENST00000410041.1:c.998_999delinsTC	ENSP00000386617.1:p.Phe333=
ENST00000413539.6:c.995_996delinsTC	ENSP00000407046.2:p.Phe332=
ENST00000429174.6:c.902_903delinsTC	ENSP00000398305.2:p.Phe301=
NM_001130455.1:c.905_906delinsTC	NP_001123927.1:p.Phe302=
NM_001130976.1:c.902_903delinsTC	NP_001124448.1:p.Phe301=
NM_001130977.1:c.902_903delinsTC	NP_001124449.1:p.Phe301=
NM_001130978.1:c.902_903delinsTC	NP_001124450.1:p.Phe301=
NM_001130979.1:c.995_996delinsTC	NP_001124451.1:p.Phe332=
NM_001130980.1:c.995_996delinsTC	NP_001124452.1:p.Phe332=
NM_001130981.1:c.995_996delinsTC	NP_001124453.1:p.Phe332=
NM_001130982.1:c.998_999delinsTC	NP_001124454.1:p.Phe333=
NM_001130983.1:c.905_906delinsTC	NP_001124455.1:p.Phe302=
NM_001130984.1:c.905_906delinsTC	NP_001124456.1:p.Phe302=
NM_001130985.1:c.998_999delinsTC	NP_001124457.1:p.Phe333=
NM_001130986.1:c.905_906delinsTC	NP_001124458.1:p.Phe302=
NM_001130987.1:c.998_999delinsTC	NP_001124459.1:p.Phe333=
NM_003494.3:c.902_903delinsTC	NP_003485.1:p.Phe301=
XM_005264584.3:c.998_999delinsTC	XP_005264641.1:p.Phe333=
XM_005264585.3:c.995_996delinsTC	XP_005264642.1:p.Phe332=
XM_005264584.4:c.998_999delinsTC	XP_005264641.1:p.Phe333=
XM_005264585.5:c.995_996delinsTC	XP_005264642.1:p.Phe332=
XR_001738969.1:n.1156_1157delinsTC
NM_001130987.2:c.998_999delinsTC MANE Select	NP_001124459.1:p.Phe333=
NM_001130455.2:c.905_906delinsTC	NP_001123927.1:p.Phe302=
NM_001130976.2:c.902_903delinsTC	NP_001124448.1:p.Phe301=
NM_001130977.2:c.902_903delinsTC	NP_001124449.1:p.Phe301=
NM_001130978.2:c.902_903delinsTC	NP_001124450.1:p.Phe301=
NM_001130979.2:c.995_996delinsTC	NP_001124451.1:p.Phe332=
NM_001130980.2:c.995_996delinsTC	NP_001124452.1:p.Phe332=
NM_001130981.2:c.995_996delinsTC	NP_001124453.1:p.Phe332=
NM_001130982.2:c.998_999delinsTC	NP_001124454.1:p.Phe333=
NM_001130983.2:c.905_906delinsTC	NP_001124455.1:p.Phe302=
NM_001130984.2:c.905_906delinsTC	NP_001124456.1:p.Phe302=
NM_001130985.2:c.998_999delinsTC	NP_001124457.1:p.Phe333=
NM_001130986.2:c.905_906delinsTC	NP_001124458.1:p.Phe302=
NM_003494.4:c.902_903delinsTC MANE Plus Clinical	NP_003485.1:p.Phe301=