Canonical Allele Identifier: CA1260095542

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71552881_71552887delinsACCCGTC , CM000664.2:g.71552881_71552887delinsACCCGTC	GRCh38
NC_000002.11:g.71780011_71780017delinsACCCGTC , CM000664.1:g.71780011_71780017delinsACCCGTC	GRCh37
NC_000002.10:g.71633519_71633525delinsACCCGTC	NCBI36
NG_008694.1:g.104259_104265delinsACCCGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1753-130_1753-124delinsACCCGTC MANE Plus Clinical	ENSP00000258104.3:n.1753-130_1753-124delinsACCCGTC
ENST00000410020.8:c.1807-130_1807-124delinsACCCGTC MANE Select	ENSP00000386881.3:n.1807-130_1807-124delinsACCCGTC
ENST00000258104.7:c.1753-130_1753-124delinsACCCGTC	ENSP00000258104.3:n.1753-130_1753-124delinsACCCGTC
ENST00000394120.6:c.1756-130_1756-124delinsACCCGTC	ENSP00000377678.2:n.1756-130_1756-124delinsACCCGTC
ENST00000409366.5:c.1756-130_1756-124delinsACCCGTC	ENSP00000386512.1:n.1756-130_1756-124delinsACCCGTC
ENST00000409582.7:c.1804-130_1804-124delinsACCCGTC	ENSP00000386547.3:n.1804-130_1804-124delinsACCCGTC
ENST00000409651.5:c.1849-130_1849-124delinsACCCGTC	ENSP00000386683.1:n.1849-130_1849-124delinsACCCGTC
ENST00000409744.5:c.1714-130_1714-124delinsACCCGTC	ENSP00000386285.1:n.1714-130_1714-124delinsACCCGTC
ENST00000409762.5:c.1804-130_1804-124delinsACCCGTC	ENSP00000387137.1:n.1804-130_1804-124delinsACCCGTC
ENST00000410020.7:c.1807-130_1807-124delinsACCCGTC	ENSP00000386881.3:n.1807-130_1807-124delinsACCCGTC
ENST00000410041.1:c.1807-130_1807-124delinsACCCGTC	ENSP00000386617.1:n.1807-130_1807-124delinsACCCGTC
ENST00000413539.6:c.1846-130_1846-124delinsACCCGTC	ENSP00000407046.2:n.1846-130_1846-124delinsACCCGTC
ENST00000429174.6:c.1753-130_1753-124delinsACCCGTC	ENSP00000398305.2:n.1753-130_1753-124delinsACCCGTC
NM_001130455.1:c.1756-130_1756-124delinsACCCGTC	NP_001123927.1:n.1756-130_1756-124delinsACCCGTC
NM_001130976.1:c.1711-130_1711-124delinsACCCGTC	NP_001124448.1:n.1711-130_1711-124delinsACCCGTC
NM_001130977.1:c.1711-130_1711-124delinsACCCGTC	NP_001124449.1:n.1711-130_1711-124delinsACCCGTC
NM_001130978.1:c.1753-130_1753-124delinsACCCGTC	NP_001124450.1:n.1753-130_1753-124delinsACCCGTC
NM_001130979.1:c.1846-130_1846-124delinsACCCGTC	NP_001124451.1:n.1846-130_1846-124delinsACCCGTC
NM_001130980.1:c.1804-130_1804-124delinsACCCGTC	NP_001124452.1:n.1804-130_1804-124delinsACCCGTC
NM_001130981.1:c.1804-130_1804-124delinsACCCGTC	NP_001124453.1:n.1804-130_1804-124delinsACCCGTC
NM_001130982.1:c.1849-130_1849-124delinsACCCGTC	NP_001124454.1:n.1849-130_1849-124delinsACCCGTC
NM_001130983.1:c.1756-130_1756-124delinsACCCGTC	NP_001124455.1:n.1756-130_1756-124delinsACCCGTC
NM_001130984.1:c.1714-130_1714-124delinsACCCGTC	NP_001124456.1:n.1714-130_1714-124delinsACCCGTC
NM_001130985.1:c.1807-130_1807-124delinsACCCGTC	NP_001124457.1:n.1807-130_1807-124delinsACCCGTC
NM_001130986.1:c.1714-130_1714-124delinsACCCGTC	NP_001124458.1:n.1714-130_1714-124delinsACCCGTC
NM_001130987.1:c.1807-130_1807-124delinsACCCGTC	NP_001124459.1:n.1807-130_1807-124delinsACCCGTC
NM_003494.3:c.1753-130_1753-124delinsACCCGTC	NP_003485.1:n.1753-130_1753-124delinsACCCGTC
XM_005264584.3:c.1849-130_1849-124delinsACCCGTC	XP_005264641.1:n.1849-130_1849-124delinsACCCGTC
XM_005264585.3:c.1846-130_1846-124delinsACCCGTC	XP_005264642.1:n.1846-130_1846-124delinsACCCGTC
XM_005264584.4:c.1849-130_1849-124delinsACCCGTC	XP_005264641.1:n.1849-130_1849-124delinsACCCGTC
XM_005264585.5:c.1846-130_1846-124delinsACCCGTC	XP_005264642.1:n.1846-130_1846-124delinsACCCGTC
XR_001738969.1:n.2007-130_2007-124delinsACCCGTC
NM_001130987.2:c.1807-130_1807-124delinsACCCGTC MANE Select	NP_001124459.1:n.1807-130_1807-124delinsACCCGTC
NM_001130455.2:c.1756-130_1756-124delinsACCCGTC	NP_001123927.1:n.1756-130_1756-124delinsACCCGTC
NM_001130976.2:c.1711-130_1711-124delinsACCCGTC	NP_001124448.1:n.1711-130_1711-124delinsACCCGTC
NM_001130977.2:c.1711-130_1711-124delinsACCCGTC	NP_001124449.1:n.1711-130_1711-124delinsACCCGTC
NM_001130978.2:c.1753-130_1753-124delinsACCCGTC	NP_001124450.1:n.1753-130_1753-124delinsACCCGTC
NM_001130979.2:c.1846-130_1846-124delinsACCCGTC	NP_001124451.1:n.1846-130_1846-124delinsACCCGTC
NM_001130980.2:c.1804-130_1804-124delinsACCCGTC	NP_001124452.1:n.1804-130_1804-124delinsACCCGTC
NM_001130981.2:c.1804-130_1804-124delinsACCCGTC	NP_001124453.1:n.1804-130_1804-124delinsACCCGTC
NM_001130982.2:c.1849-130_1849-124delinsACCCGTC	NP_001124454.1:n.1849-130_1849-124delinsACCCGTC
NM_001130983.2:c.1756-130_1756-124delinsACCCGTC	NP_001124455.1:n.1756-130_1756-124delinsACCCGTC
NM_001130984.2:c.1714-130_1714-124delinsACCCGTC	NP_001124456.1:n.1714-130_1714-124delinsACCCGTC
NM_001130985.2:c.1807-130_1807-124delinsACCCGTC	NP_001124457.1:n.1807-130_1807-124delinsACCCGTC
NM_001130986.2:c.1714-130_1714-124delinsACCCGTC	NP_001124458.1:n.1714-130_1714-124delinsACCCGTC
NM_003494.4:c.1753-130_1753-124delinsACCCGTC MANE Plus Clinical	NP_003485.1:n.1753-130_1753-124delinsACCCGTC