Canonical Allele Identifier: CA1260120183
Gene: DYSF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71602739_71602742delinsTCTC , CM000664.2:g.71602739_71602742delinsTCTC GRCh38
NC_000002.11:g.71829869_71829872delinsTCTC , CM000664.1:g.71829869_71829872delinsTCTC GRCh37
NC_000002.10:g.71683377_71683380delinsTCTC NCBI36
NG_008694.1:g.154117_154120delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1300-37_1300-34delinsTCTC ENSP00000513536.1:n.1300-37_1300-34delinsTCTC
ENST00000698058.1:c.517-37_517-34delinsTCTC ENSP00000513537.1:n.517-37_517-34delinsTCTC
ENST00000698059.1:c.517-37_517-34delinsTCTC ENSP00000513538.1:n.517-37_517-34delinsTCTC
ENST00000258104.8:c.3874-37_3874-34delinsTCTC MANE Plus Clinical ENSP00000258104.3:n.3874-37_3874-34delinsTCTC
ENST00000410020.8:c.3928-37_3928-34delinsTCTC MANE Select ENSP00000386881.3:n.3928-37_3928-34delinsTCTC
ENST00000258104.7:c.3874-37_3874-34delinsTCTC ENSP00000258104.3:n.3874-37_3874-34delinsTCTC
ENST00000394120.6:c.3877-37_3877-34delinsTCTC ENSP00000377678.2:n.3877-37_3877-34delinsTCTC
ENST00000409366.5:c.3877-37_3877-34delinsTCTC ENSP00000386512.1:n.3877-37_3877-34delinsTCTC
ENST00000409582.7:c.3925-37_3925-34delinsTCTC ENSP00000386547.3:n.3925-37_3925-34delinsTCTC
ENST00000409651.5:c.3970-37_3970-34delinsTCTC ENSP00000386683.1:n.3970-37_3970-34delinsTCTC
ENST00000409744.5:c.3835-37_3835-34delinsTCTC ENSP00000386285.1:n.3835-37_3835-34delinsTCTC
ENST00000409762.5:c.3925-37_3925-34delinsTCTC ENSP00000387137.1:n.3925-37_3925-34delinsTCTC
ENST00000410020.7:c.3928-37_3928-34delinsTCTC ENSP00000386881.3:n.3928-37_3928-34delinsTCTC
ENST00000410041.1:c.3928-37_3928-34delinsTCTC ENSP00000386617.1:n.3928-37_3928-34delinsTCTC
ENST00000413539.6:c.3967-37_3967-34delinsTCTC ENSP00000407046.2:n.3967-37_3967-34delinsTCTC
ENST00000429174.6:c.3874-37_3874-34delinsTCTC ENSP00000398305.2:n.3874-37_3874-34delinsTCTC
ENST00000472873.5:n.258-37_258-34delinsTCTC
ENST00000479049.6:n.759-37_759-34delinsTCTC
ENST00000487180.5:n.56_59delinsTCTC
ENST00000494501.5:n.234-37_234-34delinsTCTC
NM_001130455.1:c.3877-37_3877-34delinsTCTC NP_001123927.1:n.3877-37_3877-34delinsTCTC
NM_001130976.1:c.3832-37_3832-34delinsTCTC NP_001124448.1:n.3832-37_3832-34delinsTCTC
NM_001130977.1:c.3832-37_3832-34delinsTCTC NP_001124449.1:n.3832-37_3832-34delinsTCTC
NM_001130978.1:c.3874-37_3874-34delinsTCTC NP_001124450.1:n.3874-37_3874-34delinsTCTC
NM_001130979.1:c.3967-37_3967-34delinsTCTC NP_001124451.1:n.3967-37_3967-34delinsTCTC
NM_001130980.1:c.3925-37_3925-34delinsTCTC NP_001124452.1:n.3925-37_3925-34delinsTCTC
NM_001130981.1:c.3925-37_3925-34delinsTCTC NP_001124453.1:n.3925-37_3925-34delinsTCTC
NM_001130982.1:c.3970-37_3970-34delinsTCTC NP_001124454.1:n.3970-37_3970-34delinsTCTC
NM_001130983.1:c.3877-37_3877-34delinsTCTC NP_001124455.1:n.3877-37_3877-34delinsTCTC
NM_001130984.1:c.3835-37_3835-34delinsTCTC NP_001124456.1:n.3835-37_3835-34delinsTCTC
NM_001130985.1:c.3928-37_3928-34delinsTCTC NP_001124457.1:n.3928-37_3928-34delinsTCTC
NM_001130986.1:c.3835-37_3835-34delinsTCTC NP_001124458.1:n.3835-37_3835-34delinsTCTC
NM_001130987.1:c.3928-37_3928-34delinsTCTC NP_001124459.1:n.3928-37_3928-34delinsTCTC
NM_003494.3:c.3874-37_3874-34delinsTCTC NP_003485.1:n.3874-37_3874-34delinsTCTC
XM_005264584.3:c.3970-37_3970-34delinsTCTC XP_005264641.1:n.3970-37_3970-34delinsTCTC
XM_005264585.3:c.3967-37_3967-34delinsTCTC XP_005264642.1:n.3967-37_3967-34delinsTCTC
XM_005264584.4:c.3970-37_3970-34delinsTCTC XP_005264641.1:n.3970-37_3970-34delinsTCTC
XM_005264585.5:c.3967-37_3967-34delinsTCTC XP_005264642.1:n.3967-37_3967-34delinsTCTC
XR_001738969.1:n.4128-37_4128-34delinsTCTC
NM_001130987.2:c.3928-37_3928-34delinsTCTC MANE Select NP_001124459.1:n.3928-37_3928-34delinsTCTC
NM_001130455.2:c.3877-37_3877-34delinsTCTC NP_001123927.1:n.3877-37_3877-34delinsTCTC
NM_001130976.2:c.3832-37_3832-34delinsTCTC NP_001124448.1:n.3832-37_3832-34delinsTCTC
NM_001130977.2:c.3832-37_3832-34delinsTCTC NP_001124449.1:n.3832-37_3832-34delinsTCTC
NM_001130978.2:c.3874-37_3874-34delinsTCTC NP_001124450.1:n.3874-37_3874-34delinsTCTC
NM_001130979.2:c.3967-37_3967-34delinsTCTC NP_001124451.1:n.3967-37_3967-34delinsTCTC
NM_001130980.2:c.3925-37_3925-34delinsTCTC NP_001124452.1:n.3925-37_3925-34delinsTCTC
NM_001130981.2:c.3925-37_3925-34delinsTCTC NP_001124453.1:n.3925-37_3925-34delinsTCTC
NM_001130982.2:c.3970-37_3970-34delinsTCTC NP_001124454.1:n.3970-37_3970-34delinsTCTC
NM_001130983.2:c.3877-37_3877-34delinsTCTC NP_001124455.1:n.3877-37_3877-34delinsTCTC
NM_001130984.2:c.3835-37_3835-34delinsTCTC NP_001124456.1:n.3835-37_3835-34delinsTCTC
NM_001130985.2:c.3928-37_3928-34delinsTCTC NP_001124457.1:n.3928-37_3928-34delinsTCTC
NM_001130986.2:c.3835-37_3835-34delinsTCTC NP_001124458.1:n.3835-37_3835-34delinsTCTC
NM_003494.4:c.3874-37_3874-34delinsTCTC MANE Plus Clinical NP_003485.1:n.3874-37_3874-34delinsTCTC
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