Canonical Allele Identifier: CA2750417974

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686233_71686240del , CM000664.2:g.71686233_71686240del	GRCh38
NC_000002.11:g.71913363_71913370del , CM000664.1:g.71913363_71913370del	GRCh37
NC_000002.10:g.71766871_71766878del	NCBI36
NG_008694.1:g.237611_237618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3736-221_3736-214del	ENSP00000513536.1:n.3736-221_3736-214del
ENST00000698058.1:c.2953-221_2953-214del	ENSP00000513537.1:n.2953-221_2953-214del
ENST00000698059.1:c.3061-221_3061-214del	ENSP00000513538.1:n.3061-221_3061-214del
ENST00000258104.8:c.6205-221_6205-214del MANE Plus Clinical	ENSP00000258104.3:n.6205-221_6205-214del
ENST00000410020.8:c.6322-221_6322-214del MANE Select	ENSP00000386881.3:n.6322-221_6322-214del
ENST00000258104.7:c.6205-221_6205-214del	ENSP00000258104.3:n.6205-221_6205-214del
ENST00000394120.6:c.6208-221_6208-214del	ENSP00000377678.2:n.6208-221_6208-214del
ENST00000409366.5:c.6271-221_6271-214del	ENSP00000386512.1:n.6271-221_6271-214del
ENST00000409582.7:c.6319-221_6319-214del	ENSP00000386547.3:n.6319-221_6319-214del
ENST00000409651.5:c.6301-221_6301-214del	ENSP00000386683.1:n.6301-221_6301-214del
ENST00000409744.5:c.6229-221_6229-214del	ENSP00000386285.1:n.6229-221_6229-214del
ENST00000409762.5:c.6256-221_6256-214del	ENSP00000387137.1:n.6256-221_6256-214del
ENST00000410020.7:c.6322-221_6322-214del	ENSP00000386881.3:n.6322-221_6322-214del
ENST00000410041.1:c.6259-221_6259-214del	ENSP00000386617.1:n.6259-221_6259-214del
ENST00000413539.6:c.6298-221_6298-214del	ENSP00000407046.2:n.6298-221_6298-214del
ENST00000429174.6:c.6268-221_6268-214del	ENSP00000398305.2:n.6268-221_6268-214del
ENST00000479049.6:n.3090-221_3090-214del
NM_001130455.1:c.6208-221_6208-214del	NP_001123927.1:n.6208-221_6208-214del
NM_001130976.1:c.6163-221_6163-214del	NP_001124448.1:n.6163-221_6163-214del
NM_001130977.1:c.6226-221_6226-214del	NP_001124449.1:n.6226-221_6226-214del
NM_001130978.1:c.6268-221_6268-214del	NP_001124450.1:n.6268-221_6268-214del
NM_001130979.1:c.6298-221_6298-214del	NP_001124451.1:n.6298-221_6298-214del
NM_001130980.1:c.6256-221_6256-214del	NP_001124452.1:n.6256-221_6256-214del
NM_001130981.1:c.6319-221_6319-214del	NP_001124453.1:n.6319-221_6319-214del
NM_001130982.1:c.6301-221_6301-214del	NP_001124454.1:n.6301-221_6301-214del
NM_001130983.1:c.6271-221_6271-214del	NP_001124455.1:n.6271-221_6271-214del
NM_001130984.1:c.6229-221_6229-214del	NP_001124456.1:n.6229-221_6229-214del
NM_001130985.1:c.6259-221_6259-214del	NP_001124457.1:n.6259-221_6259-214del
NM_001130986.1:c.6166-221_6166-214del	NP_001124458.1:n.6166-221_6166-214del
NM_001130987.1:c.6322-221_6322-214del	NP_001124459.1:n.6322-221_6322-214del
NM_003494.3:c.6205-221_6205-214del	NP_003485.1:n.6205-221_6205-214del
XM_005264584.3:c.6364-221_6364-214del	XP_005264641.1:n.6364-221_6364-214del
XM_005264585.3:c.6361-221_6361-214del	XP_005264642.1:n.6361-221_6361-214del
XM_005264584.4:c.6364-221_6364-214del	XP_005264641.1:n.6364-221_6364-214del
XM_005264585.5:c.6361-221_6361-214del	XP_005264642.1:n.6361-221_6361-214del
NM_001130987.2:c.6322-221_6322-214del MANE Select	NP_001124459.1:n.6322-221_6322-214del
NM_001130455.2:c.6208-221_6208-214del	NP_001123927.1:n.6208-221_6208-214del
NM_001130976.2:c.6163-221_6163-214del	NP_001124448.1:n.6163-221_6163-214del
NM_001130977.2:c.6226-221_6226-214del	NP_001124449.1:n.6226-221_6226-214del
NM_001130978.2:c.6268-221_6268-214del	NP_001124450.1:n.6268-221_6268-214del
NM_001130979.2:c.6298-221_6298-214del	NP_001124451.1:n.6298-221_6298-214del
NM_001130980.2:c.6256-221_6256-214del	NP_001124452.1:n.6256-221_6256-214del
NM_001130981.2:c.6319-221_6319-214del	NP_001124453.1:n.6319-221_6319-214del
NM_001130982.2:c.6301-221_6301-214del	NP_001124454.1:n.6301-221_6301-214del
NM_001130983.2:c.6271-221_6271-214del	NP_001124455.1:n.6271-221_6271-214del
NM_001130984.2:c.6229-221_6229-214del	NP_001124456.1:n.6229-221_6229-214del
NM_001130985.2:c.6259-221_6259-214del	NP_001124457.1:n.6259-221_6259-214del
NM_001130986.2:c.6166-221_6166-214del	NP_001124458.1:n.6166-221_6166-214del
NM_003494.4:c.6205-221_6205-214del MANE Plus Clinical	NP_003485.1:n.6205-221_6205-214del