Canonical Allele Identifier: CA1705168

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71454002C>T , CM000664.2:g.71454002C>T	GRCh38
NC_000002.11:g.71681132C>T , CM000664.1:g.71681132C>T	GRCh37
NC_000002.10:g.71534640C>T	NCBI36
NG_008694.1:g.5380C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003494.4:c.4C>T MANE Plus Clinical	NP_003485.1:p.Leu2=
ENST00000258104.8:c.4C>T MANE Plus Clinical	ENSP00000258104.3:p.Leu2=
NM_001130976.1:c.4C>T	NP_001124448.1:p.Leu2=
NM_001130976.2:c.4C>T	NP_001124448.1:p.Leu2=
NM_001130977.1:c.4C>T	NP_001124449.1:p.Leu2=
NM_001130977.2:c.4C>T	NP_001124449.1:p.Leu2=
NM_001130978.1:c.4C>T	NP_001124450.1:p.Leu2=
NM_001130978.2:c.4C>T	NP_001124450.1:p.Leu2=
NM_001130979.1:c.4C>T	NP_001124451.1:p.Leu2=
NM_001130979.2:c.4C>T	NP_001124451.1:p.Leu2=
NM_001130980.1:c.4C>T	NP_001124452.1:p.Leu2=
NM_001130980.2:c.4C>T	NP_001124452.1:p.Leu2=
NM_001130981.1:c.4C>T	NP_001124453.1:p.Leu2=
NM_001130981.2:c.4C>T	NP_001124453.1:p.Leu2=
NM_003494.3:c.4C>T	NP_003485.1:p.Leu2=
ENST00000258104.7:c.4C>T	ENSP00000258104.3:p.Leu2=
ENST00000409582.7:c.4C>T	ENSP00000386547.3:p.Leu2=
ENST00000409762.5:c.4C>T	ENSP00000387137.1:p.Leu2=
ENST00000413539.6:c.4C>T	ENSP00000407046.2:p.Leu2=
ENST00000429174.6:c.4C>T	ENSP00000398305.2:p.Leu2=
XM_005264585.3:c.4C>T	XP_005264642.1:p.Leu2=
XM_005264585.5:c.4C>T	XP_005264642.1:p.Leu2=