Canonical Allele Identifier: CA1139532905

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669097_71669113del , CM000664.2:g.71669097_71669113del	GRCh38
NC_000002.11:g.71896227_71896243del , CM000664.1:g.71896227_71896243del	GRCh37
NC_000002.10:g.71749735_71749751del	NCBI36
NG_008694.1:g.220475_220491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2961-15_2962del
ENST00000698058.1:c.2178-15_2179del
ENST00000698059.1:c.2286-15_2287del
ENST00000258104.8:c.5430-15_5431del
ENST00000410020.8:c.5547-15_5548del
ENST00000258104.7:c.5430-15_5431del
ENST00000394120.6:c.5433-15_5434del
ENST00000409366.5:c.5496-15_5497del
ENST00000409582.7:c.5544-15_5545del
ENST00000409651.5:c.5526-15_5527del
ENST00000409744.5:c.5454-15_5455del
ENST00000409762.5:c.5481-15_5482del
ENST00000410020.7:c.5547-15_5548del
ENST00000410041.1:c.5484-15_5485del
ENST00000413539.6:c.5523-15_5524del
ENST00000429174.6:c.5493-15_5494del
ENST00000479049.6:n.2315-15_2316del
NM_001130455.1:c.5433-15_5434del
NM_001130976.1:c.5388-15_5389del
NM_001130977.1:c.5451-15_5452del
NM_001130978.1:c.5493-15_5494del
NM_001130979.1:c.5523-15_5524del
NM_001130980.1:c.5481-15_5482del
NM_001130981.1:c.5544-15_5545del
NM_001130982.1:c.5526-15_5527del
NM_001130983.1:c.5496-15_5497del
NM_001130984.1:c.5454-15_5455del
NM_001130985.1:c.5484-15_5485del
NM_001130986.1:c.5391-15_5392del
NM_001130987.1:c.5547-15_5548del
NM_003494.3:c.5430-15_5431del
XM_005264584.3:c.5589-15_5590del
XM_005264585.3:c.5586-15_5587del
XM_005264584.4:c.5589-15_5590del
XM_005264585.5:c.5586-15_5587del
NM_001130987.2:c.5547-15_5548del
NM_001130455.2:c.5433-15_5434del
NM_001130976.2:c.5388-15_5389del
NM_001130977.2:c.5451-15_5452del
NM_001130978.2:c.5493-15_5494del
NM_001130979.2:c.5523-15_5524del
NM_001130980.2:c.5481-15_5482del
NM_001130981.2:c.5544-15_5545del
NM_001130982.2:c.5526-15_5527del
NM_001130983.2:c.5496-15_5497del
NM_001130984.2:c.5454-15_5455del
NM_001130985.2:c.5484-15_5485del
NM_001130986.2:c.5391-15_5392del
NM_003494.4:c.5430-15_5431del