Canonical Allele Identifier: CA1260152141

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669029_71669037delinsTGCTTCTTG , CM000664.2:g.71669029_71669037delinsTGCTTCTTG	GRCh38
NC_000002.11:g.71896159_71896167delinsTGCTTCTTG , CM000664.1:g.71896159_71896167delinsTGCTTCTTG	GRCh37
NC_000002.10:g.71749667_71749675delinsTGCTTCTTG	NCBI36
NG_008694.1:g.220407_220415delinsTGCTTCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2961-83_2961-75delinsTGCTTCTTG	ENSP00000513536.1:n.2961-83_2961-75delinsTGCTTCTTG
ENST00000698058.1:c.2178-83_2178-75delinsTGCTTCTTG	ENSP00000513537.1:n.2178-83_2178-75delinsTGCTTCTTG
ENST00000698059.1:c.2286-83_2286-75delinsTGCTTCTTG	ENSP00000513538.1:n.2286-83_2286-75delinsTGCTTCTTG
ENST00000258104.8:c.5430-83_5430-75delinsTGCTTCTTG MANE Plus Clinical	ENSP00000258104.3:n.5430-83_5430-75delinsTGCTTCTTG
ENST00000410020.8:c.5547-83_5547-75delinsTGCTTCTTG MANE Select	ENSP00000386881.3:n.5547-83_5547-75delinsTGCTTCTTG
ENST00000258104.7:c.5430-83_5430-75delinsTGCTTCTTG	ENSP00000258104.3:n.5430-83_5430-75delinsTGCTTCTTG
ENST00000394120.6:c.5433-83_5433-75delinsTGCTTCTTG	ENSP00000377678.2:n.5433-83_5433-75delinsTGCTTCTTG
ENST00000409366.5:c.5496-83_5496-75delinsTGCTTCTTG	ENSP00000386512.1:n.5496-83_5496-75delinsTGCTTCTTG
ENST00000409582.7:c.5544-83_5544-75delinsTGCTTCTTG	ENSP00000386547.3:n.5544-83_5544-75delinsTGCTTCTTG
ENST00000409651.5:c.5526-83_5526-75delinsTGCTTCTTG	ENSP00000386683.1:n.5526-83_5526-75delinsTGCTTCTTG
ENST00000409744.5:c.5454-83_5454-75delinsTGCTTCTTG	ENSP00000386285.1:n.5454-83_5454-75delinsTGCTTCTTG
ENST00000409762.5:c.5481-83_5481-75delinsTGCTTCTTG	ENSP00000387137.1:n.5481-83_5481-75delinsTGCTTCTTG
ENST00000410020.7:c.5547-83_5547-75delinsTGCTTCTTG	ENSP00000386881.3:n.5547-83_5547-75delinsTGCTTCTTG
ENST00000410041.1:c.5484-83_5484-75delinsTGCTTCTTG	ENSP00000386617.1:n.5484-83_5484-75delinsTGCTTCTTG
ENST00000413539.6:c.5523-83_5523-75delinsTGCTTCTTG	ENSP00000407046.2:n.5523-83_5523-75delinsTGCTTCTTG
ENST00000429174.6:c.5493-83_5493-75delinsTGCTTCTTG	ENSP00000398305.2:n.5493-83_5493-75delinsTGCTTCTTG
ENST00000479049.6:n.2315-83_2315-75delinsTGCTTCTTG
NM_001130455.1:c.5433-83_5433-75delinsTGCTTCTTG	NP_001123927.1:n.5433-83_5433-75delinsTGCTTCTTG
NM_001130976.1:c.5388-83_5388-75delinsTGCTTCTTG	NP_001124448.1:n.5388-83_5388-75delinsTGCTTCTTG
NM_001130977.1:c.5451-83_5451-75delinsTGCTTCTTG	NP_001124449.1:n.5451-83_5451-75delinsTGCTTCTTG
NM_001130978.1:c.5493-83_5493-75delinsTGCTTCTTG	NP_001124450.1:n.5493-83_5493-75delinsTGCTTCTTG
NM_001130979.1:c.5523-83_5523-75delinsTGCTTCTTG	NP_001124451.1:n.5523-83_5523-75delinsTGCTTCTTG
NM_001130980.1:c.5481-83_5481-75delinsTGCTTCTTG	NP_001124452.1:n.5481-83_5481-75delinsTGCTTCTTG
NM_001130981.1:c.5544-83_5544-75delinsTGCTTCTTG	NP_001124453.1:n.5544-83_5544-75delinsTGCTTCTTG
NM_001130982.1:c.5526-83_5526-75delinsTGCTTCTTG	NP_001124454.1:n.5526-83_5526-75delinsTGCTTCTTG
NM_001130983.1:c.5496-83_5496-75delinsTGCTTCTTG	NP_001124455.1:n.5496-83_5496-75delinsTGCTTCTTG
NM_001130984.1:c.5454-83_5454-75delinsTGCTTCTTG	NP_001124456.1:n.5454-83_5454-75delinsTGCTTCTTG
NM_001130985.1:c.5484-83_5484-75delinsTGCTTCTTG	NP_001124457.1:n.5484-83_5484-75delinsTGCTTCTTG
NM_001130986.1:c.5391-83_5391-75delinsTGCTTCTTG	NP_001124458.1:n.5391-83_5391-75delinsTGCTTCTTG
NM_001130987.1:c.5547-83_5547-75delinsTGCTTCTTG	NP_001124459.1:n.5547-83_5547-75delinsTGCTTCTTG
NM_003494.3:c.5430-83_5430-75delinsTGCTTCTTG	NP_003485.1:n.5430-83_5430-75delinsTGCTTCTTG
XM_005264584.3:c.5589-83_5589-75delinsTGCTTCTTG	XP_005264641.1:n.5589-83_5589-75delinsTGCTTCTTG
XM_005264585.3:c.5586-83_5586-75delinsTGCTTCTTG	XP_005264642.1:n.5586-83_5586-75delinsTGCTTCTTG
XM_005264584.4:c.5589-83_5589-75delinsTGCTTCTTG	XP_005264641.1:n.5589-83_5589-75delinsTGCTTCTTG
XM_005264585.5:c.5586-83_5586-75delinsTGCTTCTTG	XP_005264642.1:n.5586-83_5586-75delinsTGCTTCTTG
NM_001130987.2:c.5547-83_5547-75delinsTGCTTCTTG MANE Select	NP_001124459.1:n.5547-83_5547-75delinsTGCTTCTTG
NM_001130455.2:c.5433-83_5433-75delinsTGCTTCTTG	NP_001123927.1:n.5433-83_5433-75delinsTGCTTCTTG
NM_001130976.2:c.5388-83_5388-75delinsTGCTTCTTG	NP_001124448.1:n.5388-83_5388-75delinsTGCTTCTTG
NM_001130977.2:c.5451-83_5451-75delinsTGCTTCTTG	NP_001124449.1:n.5451-83_5451-75delinsTGCTTCTTG
NM_001130978.2:c.5493-83_5493-75delinsTGCTTCTTG	NP_001124450.1:n.5493-83_5493-75delinsTGCTTCTTG
NM_001130979.2:c.5523-83_5523-75delinsTGCTTCTTG	NP_001124451.1:n.5523-83_5523-75delinsTGCTTCTTG
NM_001130980.2:c.5481-83_5481-75delinsTGCTTCTTG	NP_001124452.1:n.5481-83_5481-75delinsTGCTTCTTG
NM_001130981.2:c.5544-83_5544-75delinsTGCTTCTTG	NP_001124453.1:n.5544-83_5544-75delinsTGCTTCTTG
NM_001130982.2:c.5526-83_5526-75delinsTGCTTCTTG	NP_001124454.1:n.5526-83_5526-75delinsTGCTTCTTG
NM_001130983.2:c.5496-83_5496-75delinsTGCTTCTTG	NP_001124455.1:n.5496-83_5496-75delinsTGCTTCTTG
NM_001130984.2:c.5454-83_5454-75delinsTGCTTCTTG	NP_001124456.1:n.5454-83_5454-75delinsTGCTTCTTG
NM_001130985.2:c.5484-83_5484-75delinsTGCTTCTTG	NP_001124457.1:n.5484-83_5484-75delinsTGCTTCTTG
NM_001130986.2:c.5391-83_5391-75delinsTGCTTCTTG	NP_001124458.1:n.5391-83_5391-75delinsTGCTTCTTG
NM_003494.4:c.5430-83_5430-75delinsTGCTTCTTG MANE Plus Clinical	NP_003485.1:n.5430-83_5430-75delinsTGCTTCTTG