Canonical Allele Identifier: CA2832612270
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71567951_71570741del , CM000664.2:g.71567951_71570741del GRCh38
NC_000002.11:g.71795081_71797871del , CM000664.1:g.71795081_71797871del GRCh37
NC_000002.10:g.71648589_71651379del NCBI36
NG_008694.1:g.119329_122119del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258104.8:c.2512_3174del
ENST00000410020.8:c.2566_3228del
ENST00000258104.7:c.2512_3174del
ENST00000394120.6:c.2515_3177del
ENST00000409366.5:c.2515_3177del
ENST00000409582.7:c.2563_3225del
ENST00000409651.5:c.2608_3270del
ENST00000409744.5:c.2473_3135del
ENST00000409762.5:c.2563_3225del
ENST00000410020.7:c.2566_3228del
ENST00000410041.1:c.2566_3228del
ENST00000413539.6:c.2605_3267del
ENST00000429174.6:c.2512_3174del
NM_001130455.1:c.2515_3177del
NM_001130976.1:c.2470_3132del
NM_001130977.1:c.2470_3132del
NM_001130978.1:c.2512_3174del
NM_001130979.1:c.2605_3267del
NM_001130980.1:c.2563_3225del
NM_001130981.1:c.2563_3225del
NM_001130982.1:c.2608_3270del
NM_001130983.1:c.2515_3177del
NM_001130984.1:c.2473_3135del
NM_001130985.1:c.2566_3228del
NM_001130986.1:c.2473_3135del
NM_001130987.1:c.2566_3228del
NM_003494.3:c.2512_3174del
XM_005264584.3:c.2608_3270del
XM_005264585.3:c.2605_3267del
XM_005264584.4:c.2608_3270del
XM_005264585.5:c.2605_3267del
XR_001738969.1:n.2766_3428del
NM_001130987.2:c.2566_3228del
NM_001130455.2:c.2515_3177del
NM_001130976.2:c.2470_3132del
NM_001130977.2:c.2470_3132del
NM_001130978.2:c.2512_3174del
NM_001130979.2:c.2605_3267del
NM_001130980.2:c.2563_3225del
NM_001130981.2:c.2563_3225del
NM_001130982.2:c.2608_3270del
NM_001130983.2:c.2515_3177del
NM_001130984.2:c.2473_3135del
NM_001130985.2:c.2566_3228del
NM_001130986.2:c.2473_3135del
NM_003494.4:c.2512_3174del