Canonical Allele Identifier: CA2659545837

Gene: DYSF

Linked Data

• gnomAD v4: 2-71551150-A-AGGCAAGGTAAGCCGGCTGGAGCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71551158_71551182dup , CM000664.2:g.71551158_71551182dup	GRCh38
NC_000002.11:g.71778288_71778312dup , CM000664.1:g.71778288_71778312dup	GRCh37
NC_000002.10:g.71631796_71631820dup	NCBI36
NG_008694.1:g.102536_102560dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1638+2_1638+26dup
ENST00000410020.8:c.1692+2_1692+26dup
ENST00000258104.7:c.1638+2_1638+26dup
ENST00000394120.6:c.1641+2_1641+26dup
ENST00000409366.5:c.1641+2_1641+26dup
ENST00000409582.7:c.1689+2_1689+26dup
ENST00000409651.5:c.1734+2_1734+26dup
ENST00000409744.5:c.1599+2_1599+26dup
ENST00000409762.5:c.1689+2_1689+26dup
ENST00000410020.7:c.1692+2_1692+26dup
ENST00000410041.1:c.1692+2_1692+26dup
ENST00000413539.6:c.1731+2_1731+26dup
ENST00000429174.6:c.1638+2_1638+26dup
NM_001130455.1:c.1641+2_1641+26dup
NM_001130976.1:c.1596+2_1596+26dup
NM_001130977.1:c.1596+2_1596+26dup
NM_001130978.1:c.1638+2_1638+26dup
NM_001130979.1:c.1731+2_1731+26dup
NM_001130980.1:c.1689+2_1689+26dup
NM_001130981.1:c.1689+2_1689+26dup
NM_001130982.1:c.1734+2_1734+26dup
NM_001130983.1:c.1641+2_1641+26dup
NM_001130984.1:c.1599+2_1599+26dup
NM_001130985.1:c.1692+2_1692+26dup
NM_001130986.1:c.1599+2_1599+26dup
NM_001130987.1:c.1692+2_1692+26dup
NM_003494.3:c.1638+2_1638+26dup
XM_005264584.3:c.1734+2_1734+26dup
XM_005264585.3:c.1731+2_1731+26dup
XM_005264584.4:c.1734+2_1734+26dup
XM_005264585.5:c.1731+2_1731+26dup
XR_001738969.1:n.1892+2_1892+26dup
NM_001130987.2:c.1692+2_1692+26dup
NM_001130455.2:c.1641+2_1641+26dup
NM_001130976.2:c.1596+2_1596+26dup
NM_001130977.2:c.1596+2_1596+26dup
NM_001130978.2:c.1638+2_1638+26dup
NM_001130979.2:c.1731+2_1731+26dup
NM_001130980.2:c.1689+2_1689+26dup
NM_001130981.2:c.1689+2_1689+26dup
NM_001130982.2:c.1734+2_1734+26dup
NM_001130983.2:c.1641+2_1641+26dup
NM_001130984.2:c.1599+2_1599+26dup
NM_001130985.2:c.1692+2_1692+26dup
NM_001130986.2:c.1599+2_1599+26dup
NM_003494.4:c.1638+2_1638+26dup