Canonical Allele Identifier: CA2837582287
Community Standard Title: NC_000002.12:g.71503055_71504556del
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71503055_71504556del , CM000664.2:g.71503055_71504556del GRCh38
NC_000002.11:g.71730185_71731686del , CM000664.1:g.71730185_71731686del GRCh37
NC_000002.10:g.71583693_71585194del NCBI36
NG_008694.1:g.54433_55934del

Transcript Alleles

HGVS Amino-acid Change
NM_001130455.1:c.240-159_345+1237del
NM_001130455.2:c.240-159_345+1237del
NM_001130976.1:c.237-159_342+1237del
NM_001130976.2:c.237-159_342+1237del
NM_001130977.1:c.237-159_342+1237del
NM_001130977.2:c.237-159_342+1237del
NM_001130978.1:c.237-159_342+1237del
NM_001130978.2:c.237-159_342+1237del
NM_001130979.1:c.237-159_342+1237del
NM_001130979.2:c.237-159_342+1237del
NM_001130980.1:c.237-159_342+1237del
NM_001130980.2:c.237-159_342+1237del
NM_001130981.1:c.237-159_342+1237del
NM_001130981.2:c.237-159_342+1237del
NM_001130982.1:c.240-159_345+1237del
NM_001130982.2:c.240-159_345+1237del
NM_001130983.1:c.240-159_345+1237del
NM_001130983.2:c.240-159_345+1237del
NM_001130984.1:c.240-159_345+1237del
NM_001130984.2:c.240-159_345+1237del
NM_001130985.1:c.240-159_345+1237del
NM_001130985.2:c.240-159_345+1237del
NM_001130986.1:c.240-159_345+1237del
NM_001130986.2:c.240-159_345+1237del
NM_001130987.1:c.240-159_345+1237del
NM_001130987.2:c.240-159_345+1237del
NM_003494.3:c.237-159_342+1237del
NM_003494.4:c.237-159_342+1237del
ENST00000258104.7:c.237-159_342+1237del
ENST00000258104.8:c.237-159_342+1237del
ENST00000394120.6:c.240-159_345+1237del
ENST00000409366.5:c.240-159_345+1237del
ENST00000409582.7:c.237-159_342+1237del
ENST00000409651.5:c.240-159_345+1237del
ENST00000409744.5:c.240-159_345+1237del
ENST00000409762.5:c.237-159_342+1237del
ENST00000410020.7:c.240-159_345+1237del
ENST00000410020.8:c.240-159_345+1237del
ENST00000410041.1:c.240-159_345+1237del
ENST00000413539.6:c.237-159_342+1237del
ENST00000429174.6:c.237-159_342+1237del
XM_005264584.3:c.240-159_345+1237del
XM_005264584.4:c.240-159_345+1237del
XM_005264585.3:c.237-159_342+1237del
XM_005264585.5:c.237-159_342+1237del
XR_001738969.1:n.398-159_503+1237del