Canonical Allele Identifier: CA1139532908

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71526321_71526348del , CM000664.2:g.71526321_71526348del	GRCh38
NC_000002.11:g.71753451_71753478del , CM000664.1:g.71753451_71753478del	GRCh37
NC_000002.10:g.71606959_71606986del	NCBI36
NG_008694.1:g.77699_77726del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.1155_1180+2del
ENST00000410020.8:c.1251_1276+2del
ENST00000258104.7:c.1155_1180+2del
ENST00000394120.6:c.1158_1183+2del
ENST00000409366.5:c.1158_1183+2del
ENST00000409582.7:c.1248_1273+2del
ENST00000409651.5:c.1251_1276+2del
ENST00000409744.5:c.1158_1183+2del
ENST00000409762.5:c.1248_1273+2del
ENST00000410020.7:c.1251_1276+2del
ENST00000410041.1:c.1251_1276+2del
ENST00000413539.6:c.1248_1273+2del
ENST00000429174.6:c.1155_1180+2del
NM_001130455.1:c.1158_1183+2del
NM_001130976.1:c.1155_1180+2del
NM_001130977.1:c.1155_1180+2del
NM_001130978.1:c.1155_1180+2del
NM_001130979.1:c.1248_1273+2del
NM_001130980.1:c.1248_1273+2del
NM_001130981.1:c.1248_1273+2del
NM_001130982.1:c.1251_1276+2del
NM_001130983.1:c.1158_1183+2del
NM_001130984.1:c.1158_1183+2del
NM_001130985.1:c.1251_1276+2del
NM_001130986.1:c.1158_1183+2del
NM_001130987.1:c.1251_1276+2del
NM_003494.3:c.1155_1180+2del
XM_005264584.3:c.1251_1276+2del
XM_005264585.3:c.1248_1273+2del
XM_005264584.4:c.1251_1276+2del
XM_005264585.5:c.1248_1273+2del
XR_001738969.1:n.1409_1434+2del
NM_001130987.2:c.1251_1276+2del
NM_001130455.2:c.1158_1183+2del
NM_001130976.2:c.1155_1180+2del
NM_001130977.2:c.1155_1180+2del
NM_001130978.2:c.1155_1180+2del
NM_001130979.2:c.1248_1273+2del
NM_001130980.2:c.1248_1273+2del
NM_001130981.2:c.1248_1273+2del
NM_001130982.2:c.1251_1276+2del
NM_001130983.2:c.1158_1183+2del
NM_001130984.2:c.1158_1183+2del
NM_001130985.2:c.1251_1276+2del
NM_001130986.2:c.1158_1183+2del
NM_003494.4:c.1155_1180+2del