Canonical Allele Identifier: CA533258803

Gene: DYSF

Linked Data

• dbSNP Id: rs1265903256
• gnomAD v2: 2-71798013-CAGATCACACCCAGCATACCCAA-C
• gnomAD v3: 2-71570883-CAGATCACACCCAGCATACCCAA-C
• gnomAD v4: 2-71570883-CAGATCACACCCAGCATACCCAA-C
• MyVariant Identifiers: chr2:g.71798014_71798035del (hg19) ; chr2:g.71798032_71798079delinsACACAGATCACACCCAGCATACCCAA (hg19) ; chr2:g.71570884_71570905del (hg38) ; chr2:g.71570902_71570949delinsACACAGATCACACCCAGCATACCCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570902_71570923del , CM000664.2:g.71570902_71570923del	GRCh38
NC_000002.11:g.71798032_71798053del , CM000664.1:g.71798032_71798053del	GRCh37
NC_000002.10:g.71651540_71651561del	NCBI36
NG_008694.1:g.122280_122301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.600+161_600+182del	ENSP00000513536.1:n.600+161_600+182del
ENST00000258104.8:c.3174+161_3174+182del MANE Plus Clinical	ENSP00000258104.3:n.3174+161_3174+182del
ENST00000410020.8:c.3228+161_3228+182del MANE Select	ENSP00000386881.3:n.3228+161_3228+182del
ENST00000258104.7:c.3174+161_3174+182del	ENSP00000258104.3:n.3174+161_3174+182del
ENST00000394120.6:c.3177+161_3177+182del	ENSP00000377678.2:n.3177+161_3177+182del
ENST00000409366.5:c.3177+161_3177+182del	ENSP00000386512.1:n.3177+161_3177+182del
ENST00000409582.7:c.3225+161_3225+182del	ENSP00000386547.3:n.3225+161_3225+182del
ENST00000409651.5:c.3270+161_3270+182del	ENSP00000386683.1:n.3270+161_3270+182del
ENST00000409744.5:c.3135+161_3135+182del	ENSP00000386285.1:n.3135+161_3135+182del
ENST00000409762.5:c.3225+161_3225+182del	ENSP00000387137.1:n.3225+161_3225+182del
ENST00000410020.7:c.3228+161_3228+182del	ENSP00000386881.3:n.3228+161_3228+182del
ENST00000410041.1:c.3228+161_3228+182del	ENSP00000386617.1:n.3228+161_3228+182del
ENST00000413539.6:c.3267+161_3267+182del	ENSP00000407046.2:n.3267+161_3267+182del
ENST00000429174.6:c.3174+161_3174+182del	ENSP00000398305.2:n.3174+161_3174+182del
NM_001130455.1:c.3177+161_3177+182del	NP_001123927.1:n.3177+161_3177+182del
NM_001130976.1:c.3132+161_3132+182del	NP_001124448.1:n.3132+161_3132+182del
NM_001130977.1:c.3132+161_3132+182del	NP_001124449.1:n.3132+161_3132+182del
NM_001130978.1:c.3174+161_3174+182del	NP_001124450.1:n.3174+161_3174+182del
NM_001130979.1:c.3267+161_3267+182del	NP_001124451.1:n.3267+161_3267+182del
NM_001130980.1:c.3225+161_3225+182del	NP_001124452.1:n.3225+161_3225+182del
NM_001130981.1:c.3225+161_3225+182del	NP_001124453.1:n.3225+161_3225+182del
NM_001130982.1:c.3270+161_3270+182del	NP_001124454.1:n.3270+161_3270+182del
NM_001130983.1:c.3177+161_3177+182del	NP_001124455.1:n.3177+161_3177+182del
NM_001130984.1:c.3135+161_3135+182del	NP_001124456.1:n.3135+161_3135+182del
NM_001130985.1:c.3228+161_3228+182del	NP_001124457.1:n.3228+161_3228+182del
NM_001130986.1:c.3135+161_3135+182del	NP_001124458.1:n.3135+161_3135+182del
NM_001130987.1:c.3228+161_3228+182del	NP_001124459.1:n.3228+161_3228+182del
NM_003494.3:c.3174+161_3174+182del	NP_003485.1:n.3174+161_3174+182del
XM_005264584.3:c.3270+161_3270+182del	XP_005264641.1:n.3270+161_3270+182del
XM_005264585.3:c.3267+161_3267+182del	XP_005264642.1:n.3267+161_3267+182del
XM_005264584.4:c.3270+161_3270+182del	XP_005264641.1:n.3270+161_3270+182del
XM_005264585.5:c.3267+161_3267+182del	XP_005264642.1:n.3267+161_3267+182del
XR_001738969.1:n.3428+161_3428+182del
NM_001130987.2:c.3228+161_3228+182del MANE Select	NP_001124459.1:n.3228+161_3228+182del
NM_001130455.2:c.3177+161_3177+182del	NP_001123927.1:n.3177+161_3177+182del
NM_001130976.2:c.3132+161_3132+182del	NP_001124448.1:n.3132+161_3132+182del
NM_001130977.2:c.3132+161_3132+182del	NP_001124449.1:n.3132+161_3132+182del
NM_001130978.2:c.3174+161_3174+182del	NP_001124450.1:n.3174+161_3174+182del
NM_001130979.2:c.3267+161_3267+182del	NP_001124451.1:n.3267+161_3267+182del
NM_001130980.2:c.3225+161_3225+182del	NP_001124452.1:n.3225+161_3225+182del
NM_001130981.2:c.3225+161_3225+182del	NP_001124453.1:n.3225+161_3225+182del
NM_001130982.2:c.3270+161_3270+182del	NP_001124454.1:n.3270+161_3270+182del
NM_001130983.2:c.3177+161_3177+182del	NP_001124455.1:n.3177+161_3177+182del
NM_001130984.2:c.3135+161_3135+182del	NP_001124456.1:n.3135+161_3135+182del
NM_001130985.2:c.3228+161_3228+182del	NP_001124457.1:n.3228+161_3228+182del
NM_001130986.2:c.3135+161_3135+182del	NP_001124458.1:n.3135+161_3135+182del
NM_003494.4:c.3174+161_3174+182del MANE Plus Clinical	NP_003485.1:n.3174+161_3174+182del