Canonical Allele Identifier: CA913190748

Gene: DMD

Linked Data

• ClinVar Variation Id: 593722
• ClinVar RCV Id: RCV000728845
• dbSNP Id: rs1569528090

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32816476_32816477del , CM000685.2:g.32816476_32816477del	GRCh38
NC_000023.10:g.32834593_32834594del , CM000685.1:g.32834593_32834594del	GRCh37
NC_000023.9:g.32744514_32744515del	NCBI36
NG_012232.1:g.528134_528135del , LRG_199:g.528134_528135del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682071.1:c.153_154del	ENSP00000508133.1:p.His51GlnfsTer3
ENST00000682437.1:n.846_847del
ENST00000682870.1:n.707_708del
ENST00000682899.1:n.729_730del
ENST00000682924.1:c.522_523del	ENSP00000508187.1:p.His174GlnfsTer3
ENST00000683309.1:n.706_707del
ENST00000683658.1:n.867_868del
ENST00000683985.1:n.729_730del
ENST00000684056.1:n.706_707del
ENST00000684165.1:n.729_730del
ENST00000684237.1:c.522_523del	ENSP00000507277.1:p.His174GlnfsTer3
ENST00000684292.1:n.729_730del
ENST00000684660.1:n.707_708del
ENST00000288447.9:c.498_499del	ENSP00000288447.4:p.His166GlnfsTer3
ENST00000357033.9:c.522_523del MANE Select	ENSP00000354923.3:p.His174GlnfsTer3
ENST00000288447.8:c.498_499del	ENSP00000288447.4:p.His166GlnfsTer3
ENST00000357033.8:c.522_523del	ENSP00000354923.3:p.His174GlnfsTer3
ENST00000378677.6:c.510_511del	ENSP00000367948.2:p.His170GlnfsTer3
ENST00000420596.5:c.93+203663_93+203664del	ENSP00000399897.1:n.93+203663_93+203664del
ENST00000447523.1:c.246+6819_246+6820del	ENSP00000395904.1:n.246+6819_246+6820del
ENST00000448370.5:c.93+203663_93+203664del	ENSP00000388559.1:n.93+203663_93+203664del
ENST00000480751.1:n.78_79del
ENST00000488902.5:n.335+203663_335+203664del
ENST00000619831.4:c.510_511del	ENSP00000479270.1:p.His170GlnfsTer3
ENST00000620040.4:c.522_523del	ENSP00000478150.1:p.His174GlnfsTer3
NM_000109.3:c.498_499del	NP_000100.2:p.His166GlnfsTer3
NM_004006.2:c.522_523del , LRG_199t1:c.522_523del	NP_003997.1:p.His174GlnfsTer3
NM_004009.3:c.510_511del	NP_004000.1:p.His170GlnfsTer3
NM_004010.3:c.153_154del	NP_004001.1:p.His51GlnfsTer3
XM_006724468.2:c.522_523del	XP_006724531.1:p.His174GlnfsTer3
XM_006724469.2:c.498_499del	XP_006724532.1:p.His166GlnfsTer3
XM_006724470.2:c.522_523del	XP_006724533.1:p.His174GlnfsTer3
XM_006724471.2:c.522_523del	XP_006724534.1:p.His174GlnfsTer3
XM_006724472.2:c.522_523del	XP_006724535.1:p.His174GlnfsTer3
XM_006724473.2:c.522_523del	XP_006724536.1:p.His174GlnfsTer3
XM_006724474.2:c.522_523del	XP_006724537.1:p.His174GlnfsTer3
XM_006724475.2:c.522_523del	XP_006724538.1:p.His174GlnfsTer3
XM_011545467.1:c.522_523del	XP_011543769.1:p.His174GlnfsTer3
XM_011545468.1:c.522_523del	XP_011543770.1:p.His174GlnfsTer3
XM_011545469.1:c.522_523del	XP_011543771.1:p.His174GlnfsTer3
XM_006724469.3:c.498_499del	XP_006724532.1:p.His166GlnfsTer3
XM_006724470.3:c.522_523del	XP_006724533.1:p.His174GlnfsTer3
XM_006724474.3:c.522_523del	XP_006724537.1:p.His174GlnfsTer3
XM_011545468.2:c.522_523del	XP_011543770.1:p.His174GlnfsTer3
XM_017029328.1:c.522_523del	XP_016884817.1:p.His174GlnfsTer3
XM_017029329.1:c.522_523del	XP_016884818.1:p.His174GlnfsTer3
XM_017029330.2:c.522_523del	XP_016884819.1:p.His174GlnfsTer3
NM_000109.4:c.498_499del	NP_000100.3:p.His166GlnfsTer3
NM_004006.3:c.522_523del MANE Select	NP_003997.2:p.His174GlnfsTer3