Canonical Allele Identifier: CA533258221

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71551636_71551637insGTT , CM000664.2:g.71551636_71551637insGTT	GRCh38
NC_000002.11:g.71778766_71778767insGTT , CM000664.1:g.71778766_71778767insGTT	GRCh37
NC_000002.10:g.71632274_71632275insGTT	NCBI36
NG_008694.1:g.103014_103015insGTT

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.1722_1723insGTT MANE Select	NP_001124459.1:p.Leu574_Leu575insVal
ENST00000410020.8:c.1722_1723insGTT MANE Select	ENSP00000386881.3:p.Leu574_Leu575insVal
NM_003494.4:c.1668_1669insGTT MANE Plus Clinical	NP_003485.1:p.Leu556_Leu557insVal
ENST00000258104.8:c.1668_1669insGTT MANE Plus Clinical	ENSP00000258104.3:p.Leu556_Leu557insVal
NM_001130455.1:c.1671_1672insGTT	NP_001123927.1:p.Leu557_Leu558insVal
NM_001130455.2:c.1671_1672insGTT	NP_001123927.1:p.Leu557_Leu558insVal
NM_001130976.1:c.1626_1627insGTT	NP_001124448.1:p.Leu542_Leu543insVal
NM_001130976.2:c.1626_1627insGTT	NP_001124448.1:p.Leu542_Leu543insVal
NM_001130977.1:c.1626_1627insGTT	NP_001124449.1:p.Leu542_Leu543insVal
NM_001130977.2:c.1626_1627insGTT	NP_001124449.1:p.Leu542_Leu543insVal
NM_001130978.1:c.1668_1669insGTT	NP_001124450.1:p.Leu556_Leu557insVal
NM_001130978.2:c.1668_1669insGTT	NP_001124450.1:p.Leu556_Leu557insVal
NM_001130979.1:c.1761_1762insGTT	NP_001124451.1:p.Leu587_Leu588insVal
NM_001130979.2:c.1761_1762insGTT	NP_001124451.1:p.Leu587_Leu588insVal
NM_001130980.1:c.1719_1720insGTT	NP_001124452.1:p.Leu573_Leu574insVal
NM_001130980.2:c.1719_1720insGTT	NP_001124452.1:p.Leu573_Leu574insVal
NM_001130981.1:c.1719_1720insGTT	NP_001124453.1:p.Leu573_Leu574insVal
NM_001130981.2:c.1719_1720insGTT	NP_001124453.1:p.Leu573_Leu574insVal
NM_001130982.1:c.1764_1765insGTT	NP_001124454.1:p.Leu588_Leu589insVal
NM_001130982.2:c.1764_1765insGTT	NP_001124454.1:p.Leu588_Leu589insVal
NM_001130983.1:c.1671_1672insGTT	NP_001124455.1:p.Leu557_Leu558insVal
NM_001130983.2:c.1671_1672insGTT	NP_001124455.1:p.Leu557_Leu558insVal
NM_001130984.1:c.1629_1630insGTT	NP_001124456.1:p.Leu543_Leu544insVal
NM_001130984.2:c.1629_1630insGTT	NP_001124456.1:p.Leu543_Leu544insVal
NM_001130985.1:c.1722_1723insGTT	NP_001124457.1:p.Leu574_Leu575insVal
NM_001130985.2:c.1722_1723insGTT	NP_001124457.1:p.Leu574_Leu575insVal
NM_001130986.1:c.1629_1630insGTT	NP_001124458.1:p.Leu543_Leu544insVal
NM_001130986.2:c.1629_1630insGTT	NP_001124458.1:p.Leu543_Leu544insVal
NM_001130987.1:c.1722_1723insGTT	NP_001124459.1:p.Leu574_Leu575insVal
NM_003494.3:c.1668_1669insGTT	NP_003485.1:p.Leu556_Leu557insVal
ENST00000258104.7:c.1668_1669insGTT	ENSP00000258104.3:p.Leu556_Leu557insVal
ENST00000394120.6:c.1671_1672insGTT	ENSP00000377678.2:p.Leu557_Leu558insVal
ENST00000409366.5:c.1671_1672insGTT	ENSP00000386512.1:p.Leu557_Leu558insVal
ENST00000409582.7:c.1719_1720insGTT	ENSP00000386547.3:p.Leu573_Leu574insVal
ENST00000409651.5:c.1764_1765insGTT	ENSP00000386683.1:p.Leu588_Leu589insVal
ENST00000409744.5:c.1629_1630insGTT	ENSP00000386285.1:p.Leu543_Leu544insVal
ENST00000409762.5:c.1719_1720insGTT	ENSP00000387137.1:p.Leu573_Leu574insVal
ENST00000410020.7:c.1722_1723insGTT	ENSP00000386881.3:p.Leu574_Leu575insVal
ENST00000410041.1:c.1722_1723insGTT	ENSP00000386617.1:p.Leu574_Leu575insVal
ENST00000413539.6:c.1761_1762insGTT	ENSP00000407046.2:p.Leu587_Leu588insVal
ENST00000429174.6:c.1668_1669insGTT	ENSP00000398305.2:p.Leu556_Leu557insVal
XM_005264584.3:c.1764_1765insGTT	XP_005264641.1:p.Leu588_Leu589insVal
XM_005264584.4:c.1764_1765insGTT	XP_005264641.1:p.Leu588_Leu589insVal
XM_005264585.3:c.1761_1762insGTT	XP_005264642.1:p.Leu587_Leu588insVal
XM_005264585.5:c.1761_1762insGTT	XP_005264642.1:p.Leu587_Leu588insVal
XR_001738969.1:n.1922_1923insGTT