Canonical Allele Identifier: CA2577000461
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71602775_71602776del , CM000664.2:g.71602775_71602776del GRCh38
NC_000002.11:g.71829905_71829906del , CM000664.1:g.71829905_71829906del GRCh37
NC_000002.10:g.71683413_71683414del NCBI36
NG_008694.1:g.154153_154154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1300-1_1300del
ENST00000698058.1:c.517-1_517del
ENST00000698059.1:c.517-1_517del
ENST00000258104.8:c.3874-1_3874del
ENST00000410020.8:c.3928-1_3928del
ENST00000258104.7:c.3874-1_3874del
ENST00000394120.6:c.3877-1_3877del
ENST00000409366.5:c.3877-1_3877del
ENST00000409582.7:c.3925-1_3925del
ENST00000409651.5:c.3970-1_3970del
ENST00000409744.5:c.3835-1_3835del
ENST00000409762.5:c.3925-1_3925del
ENST00000410020.7:c.3928-1_3928del
ENST00000410041.1:c.3928-1_3928del
ENST00000413539.6:c.3967-1_3967del
ENST00000429174.6:c.3874-1_3874del
ENST00000472873.5:n.258-1_258del
ENST00000479049.6:n.759-1_759del
ENST00000487180.5:n.92_93del
ENST00000494501.5:n.234-1_234del
NM_001130455.1:c.3877-1_3877del
NM_001130976.1:c.3832-1_3832del
NM_001130977.1:c.3832-1_3832del
NM_001130978.1:c.3874-1_3874del
NM_001130979.1:c.3967-1_3967del
NM_001130980.1:c.3925-1_3925del
NM_001130981.1:c.3925-1_3925del
NM_001130982.1:c.3970-1_3970del
NM_001130983.1:c.3877-1_3877del
NM_001130984.1:c.3835-1_3835del
NM_001130985.1:c.3928-1_3928del
NM_001130986.1:c.3835-1_3835del
NM_001130987.1:c.3928-1_3928del
NM_003494.3:c.3874-1_3874del
XM_005264584.3:c.3970-1_3970del
XM_005264585.3:c.3967-1_3967del
XM_005264584.4:c.3970-1_3970del
XM_005264585.5:c.3967-1_3967del
XR_001738969.1:n.4128-1_4128del
NM_001130987.2:c.3928-1_3928del
NM_001130455.2:c.3877-1_3877del
NM_001130976.2:c.3832-1_3832del
NM_001130977.2:c.3832-1_3832del
NM_001130978.2:c.3874-1_3874del
NM_001130979.2:c.3967-1_3967del
NM_001130980.2:c.3925-1_3925del
NM_001130981.2:c.3925-1_3925del
NM_001130982.2:c.3970-1_3970del
NM_001130983.2:c.3877-1_3877del
NM_001130984.2:c.3835-1_3835del
NM_001130985.2:c.3928-1_3928del
NM_001130986.2:c.3835-1_3835del
NM_003494.4:c.3874-1_3874del