Canonical Allele Identifier: CA2659552447

Gene: DYSF

Linked Data

• gnomAD v4: 2-71602648-A-AGTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71602650_71602651insCTGT , CM000664.2:g.71602650_71602651insCTGT	GRCh38
NC_000002.11:g.71829780_71829781insCTGT , CM000664.1:g.71829780_71829781insCTGT	GRCh37
NC_000002.10:g.71683288_71683289insCTGT	NCBI36
NG_008694.1:g.154028_154029insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1300-126_1300-125insCTGT	ENSP00000513536.1:n.1300-126_1300-125insCTGT
ENST00000698058.1:c.517-126_517-125insCTGT	ENSP00000513537.1:n.517-126_517-125insCTGT
ENST00000698059.1:c.517-126_517-125insCTGT	ENSP00000513538.1:n.517-126_517-125insCTGT
ENST00000258104.8:c.3874-126_3874-125insCTGT MANE Plus Clinical	ENSP00000258104.3:n.3874-126_3874-125insCTGT
ENST00000410020.8:c.3928-126_3928-125insCTGT MANE Select	ENSP00000386881.3:n.3928-126_3928-125insCTGT
ENST00000258104.7:c.3874-126_3874-125insCTGT	ENSP00000258104.3:n.3874-126_3874-125insCTGT
ENST00000394120.6:c.3877-126_3877-125insCTGT	ENSP00000377678.2:n.3877-126_3877-125insCTGT
ENST00000409366.5:c.3877-126_3877-125insCTGT	ENSP00000386512.1:n.3877-126_3877-125insCTGT
ENST00000409582.7:c.3925-126_3925-125insCTGT	ENSP00000386547.3:n.3925-126_3925-125insCTGT
ENST00000409651.5:c.3970-126_3970-125insCTGT	ENSP00000386683.1:n.3970-126_3970-125insCTGT
ENST00000409744.5:c.3835-126_3835-125insCTGT	ENSP00000386285.1:n.3835-126_3835-125insCTGT
ENST00000409762.5:c.3925-126_3925-125insCTGT	ENSP00000387137.1:n.3925-126_3925-125insCTGT
ENST00000410020.7:c.3928-126_3928-125insCTGT	ENSP00000386881.3:n.3928-126_3928-125insCTGT
ENST00000410041.1:c.3928-126_3928-125insCTGT	ENSP00000386617.1:n.3928-126_3928-125insCTGT
ENST00000413539.6:c.3967-126_3967-125insCTGT	ENSP00000407046.2:n.3967-126_3967-125insCTGT
ENST00000429174.6:c.3874-126_3874-125insCTGT	ENSP00000398305.2:n.3874-126_3874-125insCTGT
ENST00000472873.5:n.258-126_258-125insCTGT
ENST00000479049.6:n.759-126_759-125insCTGT
ENST00000494501.5:n.234-126_234-125insCTGT
NM_001130455.1:c.3877-126_3877-125insCTGT	NP_001123927.1:n.3877-126_3877-125insCTGT
NM_001130976.1:c.3832-126_3832-125insCTGT	NP_001124448.1:n.3832-126_3832-125insCTGT
NM_001130977.1:c.3832-126_3832-125insCTGT	NP_001124449.1:n.3832-126_3832-125insCTGT
NM_001130978.1:c.3874-126_3874-125insCTGT	NP_001124450.1:n.3874-126_3874-125insCTGT
NM_001130979.1:c.3967-126_3967-125insCTGT	NP_001124451.1:n.3967-126_3967-125insCTGT
NM_001130980.1:c.3925-126_3925-125insCTGT	NP_001124452.1:n.3925-126_3925-125insCTGT
NM_001130981.1:c.3925-126_3925-125insCTGT	NP_001124453.1:n.3925-126_3925-125insCTGT
NM_001130982.1:c.3970-126_3970-125insCTGT	NP_001124454.1:n.3970-126_3970-125insCTGT
NM_001130983.1:c.3877-126_3877-125insCTGT	NP_001124455.1:n.3877-126_3877-125insCTGT
NM_001130984.1:c.3835-126_3835-125insCTGT	NP_001124456.1:n.3835-126_3835-125insCTGT
NM_001130985.1:c.3928-126_3928-125insCTGT	NP_001124457.1:n.3928-126_3928-125insCTGT
NM_001130986.1:c.3835-126_3835-125insCTGT	NP_001124458.1:n.3835-126_3835-125insCTGT
NM_001130987.1:c.3928-126_3928-125insCTGT	NP_001124459.1:n.3928-126_3928-125insCTGT
NM_003494.3:c.3874-126_3874-125insCTGT	NP_003485.1:n.3874-126_3874-125insCTGT
XM_005264584.3:c.3970-126_3970-125insCTGT	XP_005264641.1:n.3970-126_3970-125insCTGT
XM_005264585.3:c.3967-126_3967-125insCTGT	XP_005264642.1:n.3967-126_3967-125insCTGT
XM_005264584.4:c.3970-126_3970-125insCTGT	XP_005264641.1:n.3970-126_3970-125insCTGT
XM_005264585.5:c.3967-126_3967-125insCTGT	XP_005264642.1:n.3967-126_3967-125insCTGT
XR_001738969.1:n.4128-126_4128-125insCTGT
NM_001130987.2:c.3928-126_3928-125insCTGT MANE Select	NP_001124459.1:n.3928-126_3928-125insCTGT
NM_001130455.2:c.3877-126_3877-125insCTGT	NP_001123927.1:n.3877-126_3877-125insCTGT
NM_001130976.2:c.3832-126_3832-125insCTGT	NP_001124448.1:n.3832-126_3832-125insCTGT
NM_001130977.2:c.3832-126_3832-125insCTGT	NP_001124449.1:n.3832-126_3832-125insCTGT
NM_001130978.2:c.3874-126_3874-125insCTGT	NP_001124450.1:n.3874-126_3874-125insCTGT
NM_001130979.2:c.3967-126_3967-125insCTGT	NP_001124451.1:n.3967-126_3967-125insCTGT
NM_001130980.2:c.3925-126_3925-125insCTGT	NP_001124452.1:n.3925-126_3925-125insCTGT
NM_001130981.2:c.3925-126_3925-125insCTGT	NP_001124453.1:n.3925-126_3925-125insCTGT
NM_001130982.2:c.3970-126_3970-125insCTGT	NP_001124454.1:n.3970-126_3970-125insCTGT
NM_001130983.2:c.3877-126_3877-125insCTGT	NP_001124455.1:n.3877-126_3877-125insCTGT
NM_001130984.2:c.3835-126_3835-125insCTGT	NP_001124456.1:n.3835-126_3835-125insCTGT
NM_001130985.2:c.3928-126_3928-125insCTGT	NP_001124457.1:n.3928-126_3928-125insCTGT
NM_001130986.2:c.3835-126_3835-125insCTGT	NP_001124458.1:n.3835-126_3835-125insCTGT
NM_003494.4:c.3874-126_3874-125insCTGT MANE Plus Clinical	NP_003485.1:n.3874-126_3874-125insCTGT