Canonical Allele Identifier: CA2586969584

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71551058_71551076del , CM000664.2:g.71551058_71551076del	GRCh38
NC_000002.11:g.71778188_71778206del , CM000664.1:g.71778188_71778206del	GRCh37
NC_000002.10:g.71631696_71631714del	NCBI36
NG_008694.1:g.102436_102454del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.1540_1558del MANE Plus Clinical	ENSP00000258104.3:p.Phe514ProfsTer?
ENST00000410020.8:c.1594_1612del MANE Select	ENSP00000386881.3:p.Phe532ProfsTer?
ENST00000258104.7:c.1540_1558del	ENSP00000258104.3:p.Phe514ProfsTer?
ENST00000394120.6:c.1543_1561del	ENSP00000377678.2:p.Phe515ProfsTer?
ENST00000409366.5:c.1543_1561del	ENSP00000386512.1:p.Phe515ProfsTer?
ENST00000409582.7:c.1591_1609del	ENSP00000386547.3:p.Phe531ProfsTer?
ENST00000409651.5:c.1636_1654del	ENSP00000386683.1:p.Phe546ProfsTer?
ENST00000409744.5:c.1501_1519del	ENSP00000386285.1:p.Phe501ProfsTer?
ENST00000409762.5:c.1591_1609del	ENSP00000387137.1:p.Phe531ProfsTer?
ENST00000410020.7:c.1594_1612del	ENSP00000386881.3:p.Phe532ProfsTer?
ENST00000410041.1:c.1594_1612del	ENSP00000386617.1:p.Phe532ProfsTer?
ENST00000413539.6:c.1633_1651del	ENSP00000407046.2:p.Phe545ProfsTer?
ENST00000429174.6:c.1540_1558del	ENSP00000398305.2:p.Phe514ProfsTer?
NM_001130455.1:c.1543_1561del	NP_001123927.1:p.Phe515ProfsTer?
NM_001130976.1:c.1498_1516del	NP_001124448.1:p.Phe500ProfsTer?
NM_001130977.1:c.1498_1516del	NP_001124449.1:p.Phe500ProfsTer?
NM_001130978.1:c.1540_1558del	NP_001124450.1:p.Phe514ProfsTer?
NM_001130979.1:c.1633_1651del	NP_001124451.1:p.Phe545ProfsTer?
NM_001130980.1:c.1591_1609del	NP_001124452.1:p.Phe531ProfsTer?
NM_001130981.1:c.1591_1609del	NP_001124453.1:p.Phe531ProfsTer?
NM_001130982.1:c.1636_1654del	NP_001124454.1:p.Phe546ProfsTer?
NM_001130983.1:c.1543_1561del	NP_001124455.1:p.Phe515ProfsTer?
NM_001130984.1:c.1501_1519del	NP_001124456.1:p.Phe501ProfsTer?
NM_001130985.1:c.1594_1612del	NP_001124457.1:p.Phe532ProfsTer?
NM_001130986.1:c.1501_1519del	NP_001124458.1:p.Phe501ProfsTer?
NM_001130987.1:c.1594_1612del	NP_001124459.1:p.Phe532ProfsTer?
NM_003494.3:c.1540_1558del	NP_003485.1:p.Phe514ProfsTer?
XM_005264584.3:c.1636_1654del	XP_005264641.1:p.Phe546ProfsTer?
XM_005264585.3:c.1633_1651del	XP_005264642.1:p.Phe545ProfsTer?
XM_005264584.4:c.1636_1654del	XP_005264641.1:p.Phe546ProfsTer?
XM_005264585.5:c.1633_1651del	XP_005264642.1:p.Phe545ProfsTer?
XR_001738969.1:n.1794_1812del
NM_001130987.2:c.1594_1612del MANE Select	NP_001124459.1:p.Phe532ProfsTer?
NM_001130455.2:c.1543_1561del	NP_001123927.1:p.Phe515ProfsTer?
NM_001130976.2:c.1498_1516del	NP_001124448.1:p.Phe500ProfsTer?
NM_001130977.2:c.1498_1516del	NP_001124449.1:p.Phe500ProfsTer?
NM_001130978.2:c.1540_1558del	NP_001124450.1:p.Phe514ProfsTer?
NM_001130979.2:c.1633_1651del	NP_001124451.1:p.Phe545ProfsTer?
NM_001130980.2:c.1591_1609del	NP_001124452.1:p.Phe531ProfsTer?
NM_001130981.2:c.1591_1609del	NP_001124453.1:p.Phe531ProfsTer?
NM_001130982.2:c.1636_1654del	NP_001124454.1:p.Phe546ProfsTer?
NM_001130983.2:c.1543_1561del	NP_001124455.1:p.Phe515ProfsTer?
NM_001130984.2:c.1501_1519del	NP_001124456.1:p.Phe501ProfsTer?
NM_001130985.2:c.1594_1612del	NP_001124457.1:p.Phe532ProfsTer?
NM_001130986.2:c.1501_1519del	NP_001124458.1:p.Phe501ProfsTer?
NM_003494.4:c.1540_1558del MANE Plus Clinical	NP_003485.1:p.Phe514ProfsTer?