Canonical Allele Identifier: CA2659553302

Gene: DYSF

Linked Data

• gnomAD v4: 2-71611696-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611696_71611697insTG , CM000664.2:g.71611696_71611697insTG	GRCh38
NC_000002.11:g.71838826_71838827insTG , CM000664.1:g.71838826_71838827insTG	GRCh37
NC_000002.10:g.71692334_71692335insTG	NCBI36
NG_008694.1:g.163074_163075insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1635+70_1635+71insTG	ENSP00000513536.1:n.1635+70_1635+71insTG
ENST00000698058.1:c.852+70_852+71insTG	ENSP00000513537.1:n.852+70_852+71insTG
ENST00000698059.1:c.810+70_810+71insTG	ENSP00000513538.1:n.810+70_810+71insTG
ENST00000258104.8:c.4167+70_4167+71insTG MANE Plus Clinical	ENSP00000258104.3:n.4167+70_4167+71insTG
ENST00000410020.8:c.4221+70_4221+71insTG MANE Select	ENSP00000386881.3:n.4221+70_4221+71insTG
ENST00000258104.7:c.4167+70_4167+71insTG	ENSP00000258104.3:n.4167+70_4167+71insTG
ENST00000394120.6:c.4170+70_4170+71insTG	ENSP00000377678.2:n.4170+70_4170+71insTG
ENST00000409366.5:c.4170+70_4170+71insTG	ENSP00000386512.1:n.4170+70_4170+71insTG
ENST00000409582.7:c.4218+70_4218+71insTG	ENSP00000386547.3:n.4218+70_4218+71insTG
ENST00000409651.5:c.4263+70_4263+71insTG	ENSP00000386683.1:n.4263+70_4263+71insTG
ENST00000409744.5:c.4128+70_4128+71insTG	ENSP00000386285.1:n.4128+70_4128+71insTG
ENST00000409762.5:c.4218+70_4218+71insTG	ENSP00000387137.1:n.4218+70_4218+71insTG
ENST00000410020.7:c.4221+70_4221+71insTG	ENSP00000386881.3:n.4221+70_4221+71insTG
ENST00000410041.1:c.4221+70_4221+71insTG	ENSP00000386617.1:n.4221+70_4221+71insTG
ENST00000413539.6:c.4260+70_4260+71insTG	ENSP00000407046.2:n.4260+70_4260+71insTG
ENST00000429174.6:c.4167+70_4167+71insTG	ENSP00000398305.2:n.4167+70_4167+71insTG
ENST00000468173.1:n.403+70_403+71insTG
ENST00000472873.5:n.551+70_551+71insTG
ENST00000479049.6:n.1052+70_1052+71insTG
ENST00000487180.5:n.386+70_386+71insTG
ENST00000494501.5:n.465+70_465+71insTG
NM_001130455.1:c.4170+70_4170+71insTG	NP_001123927.1:n.4170+70_4170+71insTG
NM_001130976.1:c.4125+70_4125+71insTG	NP_001124448.1:n.4125+70_4125+71insTG
NM_001130977.1:c.4125+70_4125+71insTG	NP_001124449.1:n.4125+70_4125+71insTG
NM_001130978.1:c.4167+70_4167+71insTG	NP_001124450.1:n.4167+70_4167+71insTG
NM_001130979.1:c.4260+70_4260+71insTG	NP_001124451.1:n.4260+70_4260+71insTG
NM_001130980.1:c.4218+70_4218+71insTG	NP_001124452.1:n.4218+70_4218+71insTG
NM_001130981.1:c.4218+70_4218+71insTG	NP_001124453.1:n.4218+70_4218+71insTG
NM_001130982.1:c.4263+70_4263+71insTG	NP_001124454.1:n.4263+70_4263+71insTG
NM_001130983.1:c.4170+70_4170+71insTG	NP_001124455.1:n.4170+70_4170+71insTG
NM_001130984.1:c.4128+70_4128+71insTG	NP_001124456.1:n.4128+70_4128+71insTG
NM_001130985.1:c.4221+70_4221+71insTG	NP_001124457.1:n.4221+70_4221+71insTG
NM_001130986.1:c.4128+70_4128+71insTG	NP_001124458.1:n.4128+70_4128+71insTG
NM_001130987.1:c.4221+70_4221+71insTG	NP_001124459.1:n.4221+70_4221+71insTG
NM_003494.3:c.4167+70_4167+71insTG	NP_003485.1:n.4167+70_4167+71insTG
XM_005264584.3:c.4263+70_4263+71insTG	XP_005264641.1:n.4263+70_4263+71insTG
XM_005264585.3:c.4260+70_4260+71insTG	XP_005264642.1:n.4260+70_4260+71insTG
XM_005264584.4:c.4263+70_4263+71insTG	XP_005264641.1:n.4263+70_4263+71insTG
XM_005264585.5:c.4260+70_4260+71insTG	XP_005264642.1:n.4260+70_4260+71insTG
XR_001738969.1:n.4421+70_4421+71insTG
NM_001130987.2:c.4221+70_4221+71insTG MANE Select	NP_001124459.1:n.4221+70_4221+71insTG
NM_001130455.2:c.4170+70_4170+71insTG	NP_001123927.1:n.4170+70_4170+71insTG
NM_001130976.2:c.4125+70_4125+71insTG	NP_001124448.1:n.4125+70_4125+71insTG
NM_001130977.2:c.4125+70_4125+71insTG	NP_001124449.1:n.4125+70_4125+71insTG
NM_001130978.2:c.4167+70_4167+71insTG	NP_001124450.1:n.4167+70_4167+71insTG
NM_001130979.2:c.4260+70_4260+71insTG	NP_001124451.1:n.4260+70_4260+71insTG
NM_001130980.2:c.4218+70_4218+71insTG	NP_001124452.1:n.4218+70_4218+71insTG
NM_001130981.2:c.4218+70_4218+71insTG	NP_001124453.1:n.4218+70_4218+71insTG
NM_001130982.2:c.4263+70_4263+71insTG	NP_001124454.1:n.4263+70_4263+71insTG
NM_001130983.2:c.4170+70_4170+71insTG	NP_001124455.1:n.4170+70_4170+71insTG
NM_001130984.2:c.4128+70_4128+71insTG	NP_001124456.1:n.4128+70_4128+71insTG
NM_001130985.2:c.4221+70_4221+71insTG	NP_001124457.1:n.4221+70_4221+71insTG
NM_001130986.2:c.4128+70_4128+71insTG	NP_001124458.1:n.4128+70_4128+71insTG
NM_003494.4:c.4167+70_4167+71insTG MANE Plus Clinical	NP_003485.1:n.4167+70_4167+71insTG