Canonical Allele Identifier: CA16616474

Gene: DMD

Linked Data

• ClinVar Variation Id: 409885
• ClinVar RCV Id: RCV000469225
• dbSNP Id: rs1556641290
• MyVariant Identifiers: chrX:g.31462642dupG (hg19) ; chrX:g.31462641_31462642insG (hg19) ; chrX:g.31444525dupG (hg38) ; chrX:g.31444524_31444525insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444526dup , CM000685.2:g.31444526dup	GRCh38
NC_000023.10:g.31462643dup , CM000685.1:g.31462643dup	GRCh37
NC_000023.9:g.31372564dup	NCBI36
NG_012232.1:g.1900085dup , LRG_199:g.1900085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3886dup	ENSP00000350765.3:p.Leu1296ProfsTer27
ENST00000682238.1:c.1660dup	ENSP00000508124.1:p.Leu554ProfsTer27
ENST00000683450.1:n.2505dup
ENST00000683957.1:n.2532dup
ENST00000684130.1:c.1660dup	ENSP00000508037.1:p.Leu554ProfsTer27
ENST00000343523.7:c.895dup	ENSP00000340057.4:p.Leu299ProfsTer27
ENST00000357033.9:c.9040dup MANE Select	ENSP00000354923.3:p.Leu3014ProfsTer27
ENST00000619831.5:c.5008dup	ENSP00000479270.2:p.Leu1670ProfsTer27
ENST00000620040.5:c.1660dup	ENSP00000478150.2:p.Leu554ProfsTer27
ENST00000680961.1:c.1660dup	ENSP00000506386.1:p.Leu554ProfsTer27
ENST00000681646.1:n.2701dup
ENST00000343523.6:c.853dup	ENSP00000340057.3:p.Leu285ProfsTer27
ENST00000357033.8:c.9040dup	ENSP00000354923.3:p.Leu3014ProfsTer27
ENST00000358062.6:c.2128dup	ENSP00000350765.2:p.Leu710ProfsTer27
ENST00000359836.5:c.1660dup	ENSP00000352894.1:p.Leu554ProfsTer27
ENST00000378677.6:c.9028dup	ENSP00000367948.2:p.Leu3010ProfsTer27
ENST00000378707.7:c.1660dup	ENSP00000367979.3:p.Leu554ProfsTer27
ENST00000474231.5:c.1660dup	ENSP00000417123.1:p.Leu554ProfsTer27
ENST00000541735.5:c.1660dup	ENSP00000444119.1:p.Leu554ProfsTer27
ENST00000619831.4:c.9025dup	ENSP00000479270.1:p.Leu3009ProfsTer27
ENST00000620040.4:c.9037dup	ENSP00000478150.1:p.Leu3013ProfsTer27
NM_000109.3:c.9016dup	NP_000100.2:p.Leu3006ProfsTer27
NM_004006.2:c.9040dup , LRG_199t1:c.9040dup	NP_003997.1:p.Leu3014ProfsTer27
NM_004009.3:c.9028dup	NP_004000.1:p.Leu3010ProfsTer27
NM_004010.3:c.8671dup	NP_004001.1:p.Leu2891ProfsTer27
NM_004011.3:c.5017dup	NP_004002.2:p.Leu1673ProfsTer27
NM_004012.3:c.5008dup	NP_004003.1:p.Leu1670ProfsTer27
NM_004013.2:c.1660dup	NP_004004.1:p.Leu554ProfsTer27
NM_004014.2:c.853dup	NP_004005.1:p.Leu285ProfsTer27
NM_004020.3:c.1660dup	NP_004011.2:p.Leu554ProfsTer27
NM_004021.2:c.1660dup	NP_004012.1:p.Leu554ProfsTer27
NM_004022.2:c.1660dup	NP_004013.1:p.Leu554ProfsTer27
NM_004023.2:c.1660dup	NP_004014.1:p.Leu554ProfsTer27
XM_006724468.2:c.9040dup	XP_006724531.1:p.Leu3014ProfsTer27
XM_006724469.2:c.9016dup	XP_006724532.1:p.Leu3006ProfsTer27
XM_006724470.2:c.9040dup	XP_006724533.1:p.Leu3014ProfsTer27
XM_006724471.2:c.9040dup	XP_006724534.1:p.Leu3014ProfsTer27
XM_006724472.2:c.8911dup	XP_006724535.1:p.Leu2971ProfsTer27
XM_006724473.2:c.8902dup	XP_006724536.1:p.Leu2968ProfsTer27
XM_006724474.2:c.9040dup	XP_006724537.1:p.Leu3014ProfsTer27
XM_006724475.2:c.9040dup	XP_006724538.1:p.Leu3014ProfsTer27
XM_011545467.1:c.8917dup	XP_011543769.1:p.Leu2973ProfsTer27
XM_011545468.1:c.9040dup	XP_011543770.1:p.Leu3014ProfsTer27
XM_006724469.3:c.9016dup	XP_006724532.1:p.Leu3006ProfsTer27
XM_006724470.3:c.9040dup	XP_006724533.1:p.Leu3014ProfsTer27
XM_006724474.3:c.9040dup	XP_006724537.1:p.Leu3014ProfsTer27
XM_011545468.2:c.9040dup	XP_011543770.1:p.Leu3014ProfsTer27
XM_017029328.1:c.9040dup	XP_016884817.1:p.Leu3014ProfsTer27
XM_017029331.1:c.3214dup	XP_016884820.1:p.Leu1072ProfsTer27
NM_000109.4:c.9016dup	NP_000100.3:p.Leu3006ProfsTer27
NM_004006.3:c.9040dup MANE Select	NP_003997.2:p.Leu3014ProfsTer27
NM_004011.4:c.5017dup	NP_004002.3:p.Leu1673ProfsTer27
NM_004012.4:c.5008dup	NP_004003.2:p.Leu1670ProfsTer27
NM_004021.3:c.1660dup	NP_004012.2:p.Leu554ProfsTer27
NM_004023.3:c.1660dup	NP_004014.2:p.Leu554ProfsTer27
NM_004013.3:c.1660dup	NP_004004.2:p.Leu554ProfsTer27
NM_004014.3:c.853dup	NP_004005.2:p.Leu285ProfsTer27
NM_004020.4:c.1660dup	NP_004011.3:p.Leu554ProfsTer27
NM_004022.3:c.1660dup	NP_004013.2:p.Leu554ProfsTer27