Canonical Allele Identifier: CA2586969511

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71643983del , CM000664.2:g.71643983del	GRCh38
NC_000002.11:g.71871113del , CM000664.1:g.71871113del	GRCh37
NC_000002.10:g.71724621del	NCBI36
NG_008694.1:g.195361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1960del	ENSP00000513536.1:p.Trp654GlyfsTer9
ENST00000698058.1:c.1177del	ENSP00000513537.1:p.Trp393GlyfsTer9
ENST00000698059.1:c.1285del	ENSP00000513538.1:p.Trp429GlyfsTer9
ENST00000258104.8:c.4429del MANE Plus Clinical	ENSP00000258104.3:p.Trp1477GlyfsTer9
ENST00000410020.8:c.4546del MANE Select	ENSP00000386881.3:p.Trp1516GlyfsTer9
ENST00000258104.7:c.4429del	ENSP00000258104.3:p.Trp1477GlyfsTer9
ENST00000394120.6:c.4432del	ENSP00000377678.2:p.Trp1478GlyfsTer9
ENST00000409366.5:c.4495del	ENSP00000386512.1:p.Trp1499GlyfsTer9
ENST00000409582.7:c.4543del	ENSP00000386547.3:p.Trp1515GlyfsTer9
ENST00000409651.5:c.4525del	ENSP00000386683.1:p.Trp1509GlyfsTer9
ENST00000409744.5:c.4453del	ENSP00000386285.1:p.Trp1485GlyfsTer9
ENST00000409762.5:c.4480del	ENSP00000387137.1:p.Trp1494GlyfsTer9
ENST00000410020.7:c.4546del	ENSP00000386881.3:p.Trp1516GlyfsTer9
ENST00000410041.1:c.4483del	ENSP00000386617.1:p.Trp1495GlyfsTer9
ENST00000413539.6:c.4522del	ENSP00000407046.2:p.Trp1508GlyfsTer9
ENST00000429174.6:c.4492del	ENSP00000398305.2:p.Trp1498GlyfsTer9
ENST00000468173.1:n.728del
ENST00000479049.6:n.1314del
NM_001130455.1:c.4432del	NP_001123927.1:p.Trp1478GlyfsTer9
NM_001130976.1:c.4387del	NP_001124448.1:p.Trp1463GlyfsTer9
NM_001130977.1:c.4450del	NP_001124449.1:p.Trp1484GlyfsTer9
NM_001130978.1:c.4492del	NP_001124450.1:p.Trp1498GlyfsTer9
NM_001130979.1:c.4522del	NP_001124451.1:p.Trp1508GlyfsTer9
NM_001130980.1:c.4480del	NP_001124452.1:p.Trp1494GlyfsTer9
NM_001130981.1:c.4543del	NP_001124453.1:p.Trp1515GlyfsTer9
NM_001130982.1:c.4525del	NP_001124454.1:p.Trp1509GlyfsTer9
NM_001130983.1:c.4495del	NP_001124455.1:p.Trp1499GlyfsTer9
NM_001130984.1:c.4453del	NP_001124456.1:p.Trp1485GlyfsTer9
NM_001130985.1:c.4483del	NP_001124457.1:p.Trp1495GlyfsTer9
NM_001130986.1:c.4390del	NP_001124458.1:p.Trp1464GlyfsTer9
NM_001130987.1:c.4546del	NP_001124459.1:p.Trp1516GlyfsTer9
NM_003494.3:c.4429del	NP_003485.1:p.Trp1477GlyfsTer9
XM_005264584.3:c.4588del	XP_005264641.1:p.Trp1530GlyfsTer9
XM_005264585.3:c.4585del	XP_005264642.1:p.Trp1529GlyfsTer9
XM_005264584.4:c.4588del	XP_005264641.1:p.Trp1530GlyfsTer9
XM_005264585.5:c.4585del	XP_005264642.1:p.Trp1529GlyfsTer9
XR_001738969.1:n.4746del
NM_001130987.2:c.4546del MANE Select	NP_001124459.1:p.Trp1516GlyfsTer9
NM_001130455.2:c.4432del	NP_001123927.1:p.Trp1478GlyfsTer9
NM_001130976.2:c.4387del	NP_001124448.1:p.Trp1463GlyfsTer9
NM_001130977.2:c.4450del	NP_001124449.1:p.Trp1484GlyfsTer9
NM_001130978.2:c.4492del	NP_001124450.1:p.Trp1498GlyfsTer9
NM_001130979.2:c.4522del	NP_001124451.1:p.Trp1508GlyfsTer9
NM_001130980.2:c.4480del	NP_001124452.1:p.Trp1494GlyfsTer9
NM_001130981.2:c.4543del	NP_001124453.1:p.Trp1515GlyfsTer9
NM_001130982.2:c.4525del	NP_001124454.1:p.Trp1509GlyfsTer9
NM_001130983.2:c.4495del	NP_001124455.1:p.Trp1499GlyfsTer9
NM_001130984.2:c.4453del	NP_001124456.1:p.Trp1485GlyfsTer9
NM_001130985.2:c.4483del	NP_001124457.1:p.Trp1495GlyfsTer9
NM_001130986.2:c.4390del	NP_001124458.1:p.Trp1464GlyfsTer9
NM_003494.4:c.4429del MANE Plus Clinical	NP_003485.1:p.Trp1477GlyfsTer9