Canonical Allele Identifier: CA915950907

Gene: DMD

Linked Data

• ClinVar Variation Id: 803908
• ClinVar RCV Id: RCV000990705
• dbSNP Id: rs1603634742

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32491325_32491331del , CM000685.2:g.32491325_32491331del	GRCh38
NC_000023.10:g.32509442_32509448del , CM000685.1:g.32509442_32509448del	GRCh37
NC_000023.9:g.32419363_32419369del	NCBI36
NG_012232.1:g.853283_853289del , LRG_199:g.853283_853289del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682899.1:n.2779_2785del
ENST00000683985.1:n.2779_2785del
ENST00000357033.9:c.2572_2578del MANE Select	ENSP00000354923.3:p.Thr858HisfsTer11
ENST00000357033.8:c.2572_2578del	ENSP00000354923.3:p.Thr858HisfsTer11
ENST00000378677.6:c.2560_2566del	ENSP00000367948.2:p.Thr854HisfsTer11
ENST00000420596.5:c.94-126128_94-126122del	ENSP00000399897.1:n.94-126128_94-126122de...
ENST00000448370.5:c.94-126617_94-126611del	ENSP00000388559.1:n.94-126617_94-126611de...
ENST00000488902.5:n.336-274264_336-274258del
ENST00000619831.4:c.2560_2566del	ENSP00000479270.1:p.Thr854HisfsTer11
ENST00000620040.4:c.2572_2578del	ENSP00000478150.1:p.Thr858HisfsTer11
NM_000109.3:c.2548_2554del	NP_000100.2:p.Thr850HisfsTer11
NM_004006.2:c.2572_2578del , LRG_199t1:c.2572_2578del	NP_003997.1:p.Thr858HisfsTer11
NM_004009.3:c.2560_2566del	NP_004000.1:p.Thr854HisfsTer11
NM_004010.3:c.2203_2209del	NP_004001.1:p.Thr735HisfsTer11
XM_006724468.2:c.2572_2578del	XP_006724531.1:p.Thr858HisfsTer11
XM_006724469.2:c.2548_2554del	XP_006724532.1:p.Thr850HisfsTer11
XM_006724470.2:c.2572_2578del	XP_006724533.1:p.Thr858HisfsTer11
XM_006724471.2:c.2572_2578del	XP_006724534.1:p.Thr858HisfsTer11
XM_006724472.2:c.2443_2449del	XP_006724535.1:p.Thr815HisfsTer11
XM_006724473.2:c.2572_2578del	XP_006724536.1:p.Thr858HisfsTer11
XM_006724474.2:c.2572_2578del	XP_006724537.1:p.Thr858HisfsTer11
XM_006724475.2:c.2572_2578del	XP_006724538.1:p.Thr858HisfsTer11
XM_011545467.1:c.2572_2578del	XP_011543769.1:p.Thr858HisfsTer11
XM_011545468.1:c.2572_2578del	XP_011543770.1:p.Thr858HisfsTer11
XM_011545469.1:c.2572_2578del	XP_011543771.1:p.Thr858HisfsTer11
XM_006724469.3:c.2548_2554del	XP_006724532.1:p.Thr850HisfsTer11
XM_006724470.3:c.2572_2578del	XP_006724533.1:p.Thr858HisfsTer11
XM_006724474.3:c.2572_2578del	XP_006724537.1:p.Thr858HisfsTer11
XM_011545468.2:c.2572_2578del	XP_011543770.1:p.Thr858HisfsTer11
XM_017029328.1:c.2572_2578del	XP_016884817.1:p.Thr858HisfsTer11
XM_017029329.1:c.2572_2578del	XP_016884818.1:p.Thr858HisfsTer11
XM_017029330.2:c.2572_2578del	XP_016884819.1:p.Thr858HisfsTer11
NM_000109.4:c.2548_2554del	NP_000100.3:p.Thr850HisfsTer11
NM_004006.3:c.2572_2578del MANE Select	NP_003997.2:p.Thr858HisfsTer11