Canonical Allele Identifier: CA1032074577

Gene: DYSF

Linked Data

• gnomAD v3: 2-71566222-C-CGGGGG
• gnomAD v4: 2-71566222-C-CGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71566223_71566227dup , CM000664.2:g.71566223_71566227dup	GRCh38
NC_000002.11:g.71793353_71793357dup , CM000664.1:g.71793353_71793357dup	GRCh37
NC_000002.10:g.71646861_71646865dup	NCBI36
NG_008694.1:g.117601_117605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.2512-1728_2512-1724dup MANE Plus Clinical	ENSP00000258104.3:n.2512-1728_2512-1724dup
ENST00000410020.8:c.2566-1728_2566-1724dup MANE Select	ENSP00000386881.3:n.2566-1728_2566-1724dup
ENST00000258104.7:c.2512-1728_2512-1724dup	ENSP00000258104.3:n.2512-1728_2512-1724dup
ENST00000394120.6:c.2515-1728_2515-1724dup	ENSP00000377678.2:n.2515-1728_2515-1724dup
ENST00000409366.5:c.2515-1728_2515-1724dup	ENSP00000386512.1:n.2515-1728_2515-1724dup
ENST00000409582.7:c.2563-1728_2563-1724dup	ENSP00000386547.3:n.2563-1728_2563-1724dup
ENST00000409651.5:c.2608-1728_2608-1724dup	ENSP00000386683.1:n.2608-1728_2608-1724dup
ENST00000409744.5:c.2473-1728_2473-1724dup	ENSP00000386285.1:n.2473-1728_2473-1724dup
ENST00000409762.5:c.2563-1728_2563-1724dup	ENSP00000387137.1:n.2563-1728_2563-1724dup
ENST00000410020.7:c.2566-1728_2566-1724dup	ENSP00000386881.3:n.2566-1728_2566-1724dup
ENST00000410041.1:c.2566-1728_2566-1724dup	ENSP00000386617.1:n.2566-1728_2566-1724dup
ENST00000413539.6:c.2605-1728_2605-1724dup	ENSP00000407046.2:n.2605-1728_2605-1724dup
ENST00000429174.6:c.2512-1728_2512-1724dup	ENSP00000398305.2:n.2512-1728_2512-1724dup
NM_001130455.1:c.2515-1728_2515-1724dup	NP_001123927.1:n.2515-1728_2515-1724dup
NM_001130976.1:c.2470-1728_2470-1724dup	NP_001124448.1:n.2470-1728_2470-1724dup
NM_001130977.1:c.2470-1728_2470-1724dup	NP_001124449.1:n.2470-1728_2470-1724dup
NM_001130978.1:c.2512-1728_2512-1724dup	NP_001124450.1:n.2512-1728_2512-1724dup
NM_001130979.1:c.2605-1728_2605-1724dup	NP_001124451.1:n.2605-1728_2605-1724dup
NM_001130980.1:c.2563-1728_2563-1724dup	NP_001124452.1:n.2563-1728_2563-1724dup
NM_001130981.1:c.2563-1728_2563-1724dup	NP_001124453.1:n.2563-1728_2563-1724dup
NM_001130982.1:c.2608-1728_2608-1724dup	NP_001124454.1:n.2608-1728_2608-1724dup
NM_001130983.1:c.2515-1728_2515-1724dup	NP_001124455.1:n.2515-1728_2515-1724dup
NM_001130984.1:c.2473-1728_2473-1724dup	NP_001124456.1:n.2473-1728_2473-1724dup
NM_001130985.1:c.2566-1728_2566-1724dup	NP_001124457.1:n.2566-1728_2566-1724dup
NM_001130986.1:c.2473-1728_2473-1724dup	NP_001124458.1:n.2473-1728_2473-1724dup
NM_001130987.1:c.2566-1728_2566-1724dup	NP_001124459.1:n.2566-1728_2566-1724dup
NM_003494.3:c.2512-1728_2512-1724dup	NP_003485.1:n.2512-1728_2512-1724dup
XM_005264584.3:c.2608-1728_2608-1724dup	XP_005264641.1:n.2608-1728_2608-1724dup
XM_005264585.3:c.2605-1728_2605-1724dup	XP_005264642.1:n.2605-1728_2605-1724dup
XM_005264584.4:c.2608-1728_2608-1724dup	XP_005264641.1:n.2608-1728_2608-1724dup
XM_005264585.5:c.2605-1728_2605-1724dup	XP_005264642.1:n.2605-1728_2605-1724dup
XR_001738969.1:n.2766-1728_2766-1724dup
NM_001130987.2:c.2566-1728_2566-1724dup MANE Select	NP_001124459.1:n.2566-1728_2566-1724dup
NM_001130455.2:c.2515-1728_2515-1724dup	NP_001123927.1:n.2515-1728_2515-1724dup
NM_001130976.2:c.2470-1728_2470-1724dup	NP_001124448.1:n.2470-1728_2470-1724dup
NM_001130977.2:c.2470-1728_2470-1724dup	NP_001124449.1:n.2470-1728_2470-1724dup
NM_001130978.2:c.2512-1728_2512-1724dup	NP_001124450.1:n.2512-1728_2512-1724dup
NM_001130979.2:c.2605-1728_2605-1724dup	NP_001124451.1:n.2605-1728_2605-1724dup
NM_001130980.2:c.2563-1728_2563-1724dup	NP_001124452.1:n.2563-1728_2563-1724dup
NM_001130981.2:c.2563-1728_2563-1724dup	NP_001124453.1:n.2563-1728_2563-1724dup
NM_001130982.2:c.2608-1728_2608-1724dup	NP_001124454.1:n.2608-1728_2608-1724dup
NM_001130983.2:c.2515-1728_2515-1724dup	NP_001124455.1:n.2515-1728_2515-1724dup
NM_001130984.2:c.2473-1728_2473-1724dup	NP_001124456.1:n.2473-1728_2473-1724dup
NM_001130985.2:c.2566-1728_2566-1724dup	NP_001124457.1:n.2566-1728_2566-1724dup
NM_001130986.2:c.2473-1728_2473-1724dup	NP_001124458.1:n.2473-1728_2473-1724dup
NM_003494.4:c.2512-1728_2512-1724dup MANE Plus Clinical	NP_003485.1:n.2512-1728_2512-1724dup