Canonical Allele Identifier: CA2699655974

Gene: DYSF

Linked Data

• dbSNP Id: rs2152955814

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669038_71669039insGTTCTTGG , CM000664.2:g.71669038_71669039insGTTCTTGG	GRCh38
NC_000002.11:g.71896168_71896169insGTTCTTGG , CM000664.1:g.71896168_71896169insGTTCTTGG	GRCh37
NC_000002.10:g.71749676_71749677insGTTCTTGG	NCBI36
NG_008694.1:g.220416_220417insGTTCTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2961-74_2961-73insGTTCTTGG	ENSP00000513536.1:n.2961-74_2961-73insGTTCTTGG
ENST00000698058.1:c.2178-74_2178-73insGTTCTTGG	ENSP00000513537.1:n.2178-74_2178-73insGTTCTTGG
ENST00000698059.1:c.2286-74_2286-73insGTTCTTGG	ENSP00000513538.1:n.2286-74_2286-73insGTTCTTGG
ENST00000258104.8:c.5430-74_5430-73insGTTCTTGG MANE Plus Clinical	ENSP00000258104.3:n.5430-74_5430-73insGTTCTTGG
ENST00000410020.8:c.5547-74_5547-73insGTTCTTGG MANE Select	ENSP00000386881.3:n.5547-74_5547-73insGTTCTTGG
ENST00000258104.7:c.5430-74_5430-73insGTTCTTGG	ENSP00000258104.3:n.5430-74_5430-73insGTTCTTGG
ENST00000394120.6:c.5433-74_5433-73insGTTCTTGG	ENSP00000377678.2:n.5433-74_5433-73insGTTCTTGG
ENST00000409366.5:c.5496-74_5496-73insGTTCTTGG	ENSP00000386512.1:n.5496-74_5496-73insGTTCTTGG
ENST00000409582.7:c.5544-74_5544-73insGTTCTTGG	ENSP00000386547.3:n.5544-74_5544-73insGTTCTTGG
ENST00000409651.5:c.5526-74_5526-73insGTTCTTGG	ENSP00000386683.1:n.5526-74_5526-73insGTTCTTGG
ENST00000409744.5:c.5454-74_5454-73insGTTCTTGG	ENSP00000386285.1:n.5454-74_5454-73insGTTCTTGG
ENST00000409762.5:c.5481-74_5481-73insGTTCTTGG	ENSP00000387137.1:n.5481-74_5481-73insGTTCTTGG
ENST00000410020.7:c.5547-74_5547-73insGTTCTTGG	ENSP00000386881.3:n.5547-74_5547-73insGTTCTTGG
ENST00000410041.1:c.5484-74_5484-73insGTTCTTGG	ENSP00000386617.1:n.5484-74_5484-73insGTTCTTGG
ENST00000413539.6:c.5523-74_5523-73insGTTCTTGG	ENSP00000407046.2:n.5523-74_5523-73insGTTCTTGG
ENST00000429174.6:c.5493-74_5493-73insGTTCTTGG	ENSP00000398305.2:n.5493-74_5493-73insGTTCTTGG
ENST00000479049.6:n.2315-74_2315-73insGTTCTTGG
NM_001130455.1:c.5433-74_5433-73insGTTCTTGG	NP_001123927.1:n.5433-74_5433-73insGTTCTTGG
NM_001130976.1:c.5388-74_5388-73insGTTCTTGG	NP_001124448.1:n.5388-74_5388-73insGTTCTTGG
NM_001130977.1:c.5451-74_5451-73insGTTCTTGG	NP_001124449.1:n.5451-74_5451-73insGTTCTTGG
NM_001130978.1:c.5493-74_5493-73insGTTCTTGG	NP_001124450.1:n.5493-74_5493-73insGTTCTTGG
NM_001130979.1:c.5523-74_5523-73insGTTCTTGG	NP_001124451.1:n.5523-74_5523-73insGTTCTTGG
NM_001130980.1:c.5481-74_5481-73insGTTCTTGG	NP_001124452.1:n.5481-74_5481-73insGTTCTTGG
NM_001130981.1:c.5544-74_5544-73insGTTCTTGG	NP_001124453.1:n.5544-74_5544-73insGTTCTTGG
NM_001130982.1:c.5526-74_5526-73insGTTCTTGG	NP_001124454.1:n.5526-74_5526-73insGTTCTTGG
NM_001130983.1:c.5496-74_5496-73insGTTCTTGG	NP_001124455.1:n.5496-74_5496-73insGTTCTTGG
NM_001130984.1:c.5454-74_5454-73insGTTCTTGG	NP_001124456.1:n.5454-74_5454-73insGTTCTTGG
NM_001130985.1:c.5484-74_5484-73insGTTCTTGG	NP_001124457.1:n.5484-74_5484-73insGTTCTTGG
NM_001130986.1:c.5391-74_5391-73insGTTCTTGG	NP_001124458.1:n.5391-74_5391-73insGTTCTTGG
NM_001130987.1:c.5547-74_5547-73insGTTCTTGG	NP_001124459.1:n.5547-74_5547-73insGTTCTTGG
NM_003494.3:c.5430-74_5430-73insGTTCTTGG	NP_003485.1:n.5430-74_5430-73insGTTCTTGG
XM_005264584.3:c.5589-74_5589-73insGTTCTTGG	XP_005264641.1:n.5589-74_5589-73insGTTCTTGG
XM_005264585.3:c.5586-74_5586-73insGTTCTTGG	XP_005264642.1:n.5586-74_5586-73insGTTCTTGG
XM_005264584.4:c.5589-74_5589-73insGTTCTTGG	XP_005264641.1:n.5589-74_5589-73insGTTCTTGG
XM_005264585.5:c.5586-74_5586-73insGTTCTTGG	XP_005264642.1:n.5586-74_5586-73insGTTCTTGG
NM_001130987.2:c.5547-74_5547-73insGTTCTTGG MANE Select	NP_001124459.1:n.5547-74_5547-73insGTTCTTGG
NM_001130455.2:c.5433-74_5433-73insGTTCTTGG	NP_001123927.1:n.5433-74_5433-73insGTTCTTGG
NM_001130976.2:c.5388-74_5388-73insGTTCTTGG	NP_001124448.1:n.5388-74_5388-73insGTTCTTGG
NM_001130977.2:c.5451-74_5451-73insGTTCTTGG	NP_001124449.1:n.5451-74_5451-73insGTTCTTGG
NM_001130978.2:c.5493-74_5493-73insGTTCTTGG	NP_001124450.1:n.5493-74_5493-73insGTTCTTGG
NM_001130979.2:c.5523-74_5523-73insGTTCTTGG	NP_001124451.1:n.5523-74_5523-73insGTTCTTGG
NM_001130980.2:c.5481-74_5481-73insGTTCTTGG	NP_001124452.1:n.5481-74_5481-73insGTTCTTGG
NM_001130981.2:c.5544-74_5544-73insGTTCTTGG	NP_001124453.1:n.5544-74_5544-73insGTTCTTGG
NM_001130982.2:c.5526-74_5526-73insGTTCTTGG	NP_001124454.1:n.5526-74_5526-73insGTTCTTGG
NM_001130983.2:c.5496-74_5496-73insGTTCTTGG	NP_001124455.1:n.5496-74_5496-73insGTTCTTGG
NM_001130984.2:c.5454-74_5454-73insGTTCTTGG	NP_001124456.1:n.5454-74_5454-73insGTTCTTGG
NM_001130985.2:c.5484-74_5484-73insGTTCTTGG	NP_001124457.1:n.5484-74_5484-73insGTTCTTGG
NM_001130986.2:c.5391-74_5391-73insGTTCTTGG	NP_001124458.1:n.5391-74_5391-73insGTTCTTGG
NM_003494.4:c.5430-74_5430-73insGTTCTTGG MANE Plus Clinical	NP_003485.1:n.5430-74_5430-73insGTTCTTGG