Canonical Allele Identifier: CA2833362456
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71526429_71526430insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG , CM000664.2:g.71526429_71526430insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG GRCh38
NC_000002.11:g.71753559_71753560insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG , CM000664.1:g.71753559_71753560insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG GRCh37
NC_000002.10:g.71607067_71607068insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NCBI36
NG_008694.1:g.77807_77808insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000258104.8:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG MANE Plus Clinical ENSP00000258104.3:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000410020.8:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG MANE Select ENSP00000386881.3:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000258104.7:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000258104.3:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000394120.6:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000377678.2:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000409366.5:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000386512.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000409582.7:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000386547.3:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000409651.5:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000386683.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000409744.5:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000386285.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000409762.5:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000387137.1:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000410020.7:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000386881.3:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000410041.1:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000386617.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000413539.6:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000407046.2:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGG...
ENST00000429174.6:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG ENSP00000398305.2:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGG...
NM_001130455.1:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001123927.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130976.1:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124448.1:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130977.1:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124449.1:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130978.1:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124450.1:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130979.1:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124451.1:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130980.1:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124452.1:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130981.1:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124453.1:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130982.1:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124454.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130983.1:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124455.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130984.1:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124456.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130985.1:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124457.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130986.1:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124458.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130987.1:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124459.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_003494.3:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_003485.1:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTT...
XM_005264584.3:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG XP_005264641.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
XM_005264585.3:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG XP_005264642.1:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
XM_005264584.4:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG XP_005264641.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
XM_005264585.5:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG XP_005264642.1:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
XR_001738969.1:n.1434+83_1434+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG
NM_001130987.2:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG MANE Select NP_001124459.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130455.2:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001123927.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130976.2:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124448.1:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130977.2:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124449.1:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130978.2:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124450.1:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130979.2:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124451.1:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130980.2:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124452.1:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130981.2:c.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124453.1:n.1273+83_1273+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130982.2:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124454.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130983.2:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124455.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130984.2:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124456.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130985.2:c.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124457.1:n.1276+83_1276+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_001130986.2:c.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG NP_001124458.1:n.1183+83_1183+84insGGCGCCCCTGGGCGGGGGGGGGGGGG...
NM_003494.4:c.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTTGGGGGGGCGGGG MANE Plus Clinical NP_003485.1:n.1180+83_1180+84insGGCGCCCCTGGGCGGGGGGGGGGGGGCTT...