Canonical Allele Identifier: CA2659546195

Gene: DYSF

Linked Data

• gnomAD v4: 2-71526423-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71526423_71526424insC , CM000664.2:g.71526423_71526424insC	GRCh38
NC_000002.11:g.71753553_71753554insC , CM000664.1:g.71753553_71753554insC	GRCh37
NC_000002.10:g.71607061_71607062insC	NCBI36
NG_008694.1:g.77801_77802insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1180+77_1180+78insC MANE Plus Clinical	ENSP00000258104.3:n.1180+77_1180+78insC
ENST00000410020.8:c.1276+77_1276+78insC MANE Select	ENSP00000386881.3:n.1276+77_1276+78insC
ENST00000258104.7:c.1180+77_1180+78insC	ENSP00000258104.3:n.1180+77_1180+78insC
ENST00000394120.6:c.1183+77_1183+78insC	ENSP00000377678.2:n.1183+77_1183+78insC
ENST00000409366.5:c.1183+77_1183+78insC	ENSP00000386512.1:n.1183+77_1183+78insC
ENST00000409582.7:c.1273+77_1273+78insC	ENSP00000386547.3:n.1273+77_1273+78insC
ENST00000409651.5:c.1276+77_1276+78insC	ENSP00000386683.1:n.1276+77_1276+78insC
ENST00000409744.5:c.1183+77_1183+78insC	ENSP00000386285.1:n.1183+77_1183+78insC
ENST00000409762.5:c.1273+77_1273+78insC	ENSP00000387137.1:n.1273+77_1273+78insC
ENST00000410020.7:c.1276+77_1276+78insC	ENSP00000386881.3:n.1276+77_1276+78insC
ENST00000410041.1:c.1276+77_1276+78insC	ENSP00000386617.1:n.1276+77_1276+78insC
ENST00000413539.6:c.1273+77_1273+78insC	ENSP00000407046.2:n.1273+77_1273+78insC
ENST00000429174.6:c.1180+77_1180+78insC	ENSP00000398305.2:n.1180+77_1180+78insC
NM_001130455.1:c.1183+77_1183+78insC	NP_001123927.1:n.1183+77_1183+78insC
NM_001130976.1:c.1180+77_1180+78insC	NP_001124448.1:n.1180+77_1180+78insC
NM_001130977.1:c.1180+77_1180+78insC	NP_001124449.1:n.1180+77_1180+78insC
NM_001130978.1:c.1180+77_1180+78insC	NP_001124450.1:n.1180+77_1180+78insC
NM_001130979.1:c.1273+77_1273+78insC	NP_001124451.1:n.1273+77_1273+78insC
NM_001130980.1:c.1273+77_1273+78insC	NP_001124452.1:n.1273+77_1273+78insC
NM_001130981.1:c.1273+77_1273+78insC	NP_001124453.1:n.1273+77_1273+78insC
NM_001130982.1:c.1276+77_1276+78insC	NP_001124454.1:n.1276+77_1276+78insC
NM_001130983.1:c.1183+77_1183+78insC	NP_001124455.1:n.1183+77_1183+78insC
NM_001130984.1:c.1183+77_1183+78insC	NP_001124456.1:n.1183+77_1183+78insC
NM_001130985.1:c.1276+77_1276+78insC	NP_001124457.1:n.1276+77_1276+78insC
NM_001130986.1:c.1183+77_1183+78insC	NP_001124458.1:n.1183+77_1183+78insC
NM_001130987.1:c.1276+77_1276+78insC	NP_001124459.1:n.1276+77_1276+78insC
NM_003494.3:c.1180+77_1180+78insC	NP_003485.1:n.1180+77_1180+78insC
XM_005264584.3:c.1276+77_1276+78insC	XP_005264641.1:n.1276+77_1276+78insC
XM_005264585.3:c.1273+77_1273+78insC	XP_005264642.1:n.1273+77_1273+78insC
XM_005264584.4:c.1276+77_1276+78insC	XP_005264641.1:n.1276+77_1276+78insC
XM_005264585.5:c.1273+77_1273+78insC	XP_005264642.1:n.1273+77_1273+78insC
XR_001738969.1:n.1434+77_1434+78insC
NM_001130987.2:c.1276+77_1276+78insC MANE Select	NP_001124459.1:n.1276+77_1276+78insC
NM_001130455.2:c.1183+77_1183+78insC	NP_001123927.1:n.1183+77_1183+78insC
NM_001130976.2:c.1180+77_1180+78insC	NP_001124448.1:n.1180+77_1180+78insC
NM_001130977.2:c.1180+77_1180+78insC	NP_001124449.1:n.1180+77_1180+78insC
NM_001130978.2:c.1180+77_1180+78insC	NP_001124450.1:n.1180+77_1180+78insC
NM_001130979.2:c.1273+77_1273+78insC	NP_001124451.1:n.1273+77_1273+78insC
NM_001130980.2:c.1273+77_1273+78insC	NP_001124452.1:n.1273+77_1273+78insC
NM_001130981.2:c.1273+77_1273+78insC	NP_001124453.1:n.1273+77_1273+78insC
NM_001130982.2:c.1276+77_1276+78insC	NP_001124454.1:n.1276+77_1276+78insC
NM_001130983.2:c.1183+77_1183+78insC	NP_001124455.1:n.1183+77_1183+78insC
NM_001130984.2:c.1183+77_1183+78insC	NP_001124456.1:n.1183+77_1183+78insC
NM_001130985.2:c.1276+77_1276+78insC	NP_001124457.1:n.1276+77_1276+78insC
NM_001130986.2:c.1183+77_1183+78insC	NP_001124458.1:n.1183+77_1183+78insC
NM_003494.4:c.1180+77_1180+78insC MANE Plus Clinical	NP_003485.1:n.1180+77_1180+78insC