Canonical Allele Identifier: CA1139532913

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71566439_71570715del , CM000664.2:g.71566439_71570715del	GRCh38
NC_000002.11:g.71793569_71797845del , CM000664.1:g.71793569_71797845del	GRCh37
NC_000002.10:g.71647077_71651353del	NCBI36
NG_008694.1:g.117817_122093del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.2512-1512_3148del
ENST00000410020.8:c.2566-1512_3202del
ENST00000258104.7:c.2512-1512_3148del
ENST00000394120.6:c.2515-1512_3151del
ENST00000409366.5:c.2515-1512_3151del
ENST00000409582.7:c.2563-1512_3199del
ENST00000409651.5:c.2608-1512_3244del
ENST00000409744.5:c.2473-1512_3109del
ENST00000409762.5:c.2563-1512_3199del
ENST00000410020.7:c.2566-1512_3202del
ENST00000410041.1:c.2566-1512_3202del
ENST00000413539.6:c.2605-1512_3241del
ENST00000429174.6:c.2512-1512_3148del
NM_001130455.1:c.2515-1512_3151del
NM_001130976.1:c.2470-1512_3106del
NM_001130977.1:c.2470-1512_3106del
NM_001130978.1:c.2512-1512_3148del
NM_001130979.1:c.2605-1512_3241del
NM_001130980.1:c.2563-1512_3199del
NM_001130981.1:c.2563-1512_3199del
NM_001130982.1:c.2608-1512_3244del
NM_001130983.1:c.2515-1512_3151del
NM_001130984.1:c.2473-1512_3109del
NM_001130985.1:c.2566-1512_3202del
NM_001130986.1:c.2473-1512_3109del
NM_001130987.1:c.2566-1512_3202del
NM_003494.3:c.2512-1512_3148del
XM_005264584.3:c.2608-1512_3244del
XM_005264585.3:c.2605-1512_3241del
XM_005264584.4:c.2608-1512_3244del
XM_005264585.5:c.2605-1512_3241del
XR_001738969.1:n.2766-1512_3402del
NM_001130987.2:c.2566-1512_3202del
NM_001130455.2:c.2515-1512_3151del
NM_001130976.2:c.2470-1512_3106del
NM_001130977.2:c.2470-1512_3106del
NM_001130978.2:c.2512-1512_3148del
NM_001130979.2:c.2605-1512_3241del
NM_001130980.2:c.2563-1512_3199del
NM_001130981.2:c.2563-1512_3199del
NM_001130982.2:c.2608-1512_3244del
NM_001130983.2:c.2515-1512_3151del
NM_001130984.2:c.2473-1512_3109del
NM_001130985.2:c.2566-1512_3202del
NM_001130986.2:c.2473-1512_3109del
NM_003494.4:c.2512-1512_3148del