Canonical Allele Identifier: CA2580100696

Gene: DMD

Linked Data

• ClinVar Variation Id: 1709723
• ClinVar RCV Id: RCV002290065

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454764_32454765del , CM000685.2:g.32454764_32454765del	GRCh38
NC_000023.10:g.32472881_32472882del , CM000685.1:g.32472881_32472882del	GRCh37
NC_000023.9:g.32382802_32382803del	NCBI36
NG_012232.1:g.889845_889846del , LRG_199:g.889845_889846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3707_3708del
ENST00000357033.9:c.3500_3501del MANE Select	ENSP00000354923.3:p.Ser1167Ter
ENST00000357033.8:c.3500_3501del	ENSP00000354923.3:p.Ser1167Ter
ENST00000378677.6:c.3488_3489del	ENSP00000367948.2:p.Ser1163Ter
ENST00000420596.5:c.94-89566_94-89565del	ENSP00000399897.1:n.94-89566_94-89565del
ENST00000448370.5:c.94-90055_94-90054del	ENSP00000388559.1:n.94-90055_94-90054del
ENST00000488902.5:n.336-237702_336-237701del
ENST00000619831.4:c.3488_3489del	ENSP00000479270.1:p.Ser1163Ter
ENST00000620040.4:c.3500_3501del	ENSP00000478150.1:p.Ser1167Ter
NM_000109.3:c.3476_3477del	NP_000100.2:p.Ser1159Ter
NM_004006.2:c.3500_3501del , LRG_199t1:c.3500_3501del	NP_003997.1:p.Ser1167Ter
NM_004009.3:c.3488_3489del	NP_004000.1:p.Ser1163Ter
NM_004010.3:c.3131_3132del	NP_004001.1:p.Ser1044Ter
XM_006724468.2:c.3500_3501del	XP_006724531.1:p.Ser1167Ter
XM_006724469.2:c.3476_3477del	XP_006724532.1:p.Ser1159Ter
XM_006724470.2:c.3500_3501del	XP_006724533.1:p.Ser1167Ter
XM_006724471.2:c.3500_3501del	XP_006724534.1:p.Ser1167Ter
XM_006724472.2:c.3371_3372del	XP_006724535.1:p.Ser1124Ter
XM_006724473.2:c.3500_3501del	XP_006724536.1:p.Ser1167Ter
XM_006724474.2:c.3500_3501del	XP_006724537.1:p.Ser1167Ter
XM_006724475.2:c.3500_3501del	XP_006724538.1:p.Ser1167Ter
XM_011545467.1:c.3500_3501del	XP_011543769.1:p.Ser1167Ter
XM_011545468.1:c.3500_3501del	XP_011543770.1:p.Ser1167Ter
XM_011545469.1:c.3500_3501del	XP_011543771.1:p.Ser1167Ter
XM_006724469.3:c.3476_3477del	XP_006724532.1:p.Ser1159Ter
XM_006724470.3:c.3500_3501del	XP_006724533.1:p.Ser1167Ter
XM_006724474.3:c.3500_3501del	XP_006724537.1:p.Ser1167Ter
XM_011545468.2:c.3500_3501del	XP_011543770.1:p.Ser1167Ter
XM_017029328.1:c.3500_3501del	XP_016884817.1:p.Ser1167Ter
XM_017029329.1:c.3500_3501del	XP_016884818.1:p.Ser1167Ter
XM_017029330.2:c.3500_3501del	XP_016884819.1:p.Ser1167Ter
NM_000109.4:c.3476_3477del	NP_000100.3:p.Ser1159Ter
NM_004006.3:c.3500_3501del MANE Select	NP_003997.2:p.Ser1167Ter