Canonical Allele Identifier: CA49746785

Gene: DYSF

Linked Data

• dbSNP Id: rs34551069
• MyVariant Identifiers: chr2:g.71797819_71797820insA (hg19) ; chr2:g.71570689_71570690insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570689_71570690insA , CM000664.2:g.71570689_71570690insA	GRCh38
NC_000002.11:g.71797819_71797820insA , CM000664.1:g.71797819_71797820insA	GRCh37
NC_000002.10:g.71651327_71651328insA	NCBI36
NG_008694.1:g.122067_122068insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.548_549insA	ENSP00000513536.1:p.Trp184LeufsTer?
ENST00000258104.8:c.3122_3123insA MANE Plus Clinical	ENSP00000258104.3:p.Trp1042LeufsTer?
ENST00000410020.8:c.3176_3177insA MANE Select	ENSP00000386881.3:p.Trp1060LeufsTer?
ENST00000258104.7:c.3122_3123insA	ENSP00000258104.3:p.Trp1042LeufsTer?
ENST00000394120.6:c.3125_3126insA	ENSP00000377678.2:p.Trp1043LeufsTer?
ENST00000409366.5:c.3125_3126insA	ENSP00000386512.1:p.Trp1043LeufsTer?
ENST00000409582.7:c.3173_3174insA	ENSP00000386547.3:p.Trp1059LeufsTer?
ENST00000409651.5:c.3218_3219insA	ENSP00000386683.1:p.Trp1074LeufsTer?
ENST00000409744.5:c.3083_3084insA	ENSP00000386285.1:p.Trp1029LeufsTer?
ENST00000409762.5:c.3173_3174insA	ENSP00000387137.1:p.Trp1059LeufsTer?
ENST00000410020.7:c.3176_3177insA	ENSP00000386881.3:p.Trp1060LeufsTer?
ENST00000410041.1:c.3176_3177insA	ENSP00000386617.1:p.Trp1060LeufsTer?
ENST00000413539.6:c.3215_3216insA	ENSP00000407046.2:p.Trp1073LeufsTer?
ENST00000429174.6:c.3122_3123insA	ENSP00000398305.2:p.Trp1042LeufsTer?
ENST00000461565.1:n.288_289insA
NM_001130455.1:c.3125_3126insA	NP_001123927.1:p.Trp1043LeufsTer?
NM_001130976.1:c.3080_3081insA	NP_001124448.1:p.Trp1028LeufsTer?
NM_001130977.1:c.3080_3081insA	NP_001124449.1:p.Trp1028LeufsTer?
NM_001130978.1:c.3122_3123insA	NP_001124450.1:p.Trp1042LeufsTer?
NM_001130979.1:c.3215_3216insA	NP_001124451.1:p.Trp1073LeufsTer?
NM_001130980.1:c.3173_3174insA	NP_001124452.1:p.Trp1059LeufsTer?
NM_001130981.1:c.3173_3174insA	NP_001124453.1:p.Trp1059LeufsTer?
NM_001130982.1:c.3218_3219insA	NP_001124454.1:p.Trp1074LeufsTer?
NM_001130983.1:c.3125_3126insA	NP_001124455.1:p.Trp1043LeufsTer?
NM_001130984.1:c.3083_3084insA	NP_001124456.1:p.Trp1029LeufsTer?
NM_001130985.1:c.3176_3177insA	NP_001124457.1:p.Trp1060LeufsTer?
NM_001130986.1:c.3083_3084insA	NP_001124458.1:p.Trp1029LeufsTer?
NM_001130987.1:c.3176_3177insA	NP_001124459.1:p.Trp1060LeufsTer?
NM_003494.3:c.3122_3123insA	NP_003485.1:p.Trp1042LeufsTer?
XM_005264584.3:c.3218_3219insA	XP_005264641.1:p.Trp1074LeufsTer?
XM_005264585.3:c.3215_3216insA	XP_005264642.1:p.Trp1073LeufsTer?
XM_005264584.4:c.3218_3219insA	XP_005264641.1:p.Trp1074LeufsTer?
XM_005264585.5:c.3215_3216insA	XP_005264642.1:p.Trp1073LeufsTer?
XR_001738969.1:n.3376_3377insA
NM_001130987.2:c.3176_3177insA MANE Select	NP_001124459.1:p.Trp1060LeufsTer?
NM_001130455.2:c.3125_3126insA	NP_001123927.1:p.Trp1043LeufsTer?
NM_001130976.2:c.3080_3081insA	NP_001124448.1:p.Trp1028LeufsTer?
NM_001130977.2:c.3080_3081insA	NP_001124449.1:p.Trp1028LeufsTer?
NM_001130978.2:c.3122_3123insA	NP_001124450.1:p.Trp1042LeufsTer?
NM_001130979.2:c.3215_3216insA	NP_001124451.1:p.Trp1073LeufsTer?
NM_001130980.2:c.3173_3174insA	NP_001124452.1:p.Trp1059LeufsTer?
NM_001130981.2:c.3173_3174insA	NP_001124453.1:p.Trp1059LeufsTer?
NM_001130982.2:c.3218_3219insA	NP_001124454.1:p.Trp1074LeufsTer?
NM_001130983.2:c.3125_3126insA	NP_001124455.1:p.Trp1043LeufsTer?
NM_001130984.2:c.3083_3084insA	NP_001124456.1:p.Trp1029LeufsTer?
NM_001130985.2:c.3176_3177insA	NP_001124457.1:p.Trp1060LeufsTer?
NM_001130986.2:c.3083_3084insA	NP_001124458.1:p.Trp1029LeufsTer?
NM_003494.4:c.3122_3123insA MANE Plus Clinical	NP_003485.1:p.Trp1042LeufsTer?