Canonical Allele Identifier: CA2580616933

Gene: DMD

Linked Data

• ClinVar Variation Id: 2502344
• ClinVar RCV Id: RCV003228763 ; RCV003512202

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32364688del , CM000685.2:g.32364688del	GRCh38
NC_000023.10:g.32382805del , CM000685.1:g.32382805del	GRCh37
NC_000023.9:g.32292726del	NCBI36
NG_012232.1:g.979922del , LRG_199:g.979922del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357033.9:c.5048del MANE Select	ENSP00000354923.3:p.Thr1683IlefsTer?
ENST00000619831.5:c.1016del	ENSP00000479270.2:p.Thr339IlefsTer?
ENST00000357033.8:c.5048del	ENSP00000354923.3:p.Thr1683IlefsTer?
ENST00000378677.6:c.5036del	ENSP00000367948.2:p.Thr1679IlefsTer?
ENST00000420596.5:c.296del	ENSP00000399897.1:p.Thr99IlefsTer?
ENST00000448370.5:c.116del	ENSP00000388559.1:p.Thr39IlefsTer?
ENST00000488902.5:n.336-147625del
ENST00000619831.4:c.5036del	ENSP00000479270.1:p.Thr1679IlefsTer?
ENST00000620040.4:c.5048del	ENSP00000478150.1:p.Thr1683IlefsTer?
NM_000109.3:c.5024del	NP_000100.2:p.Thr1675IlefsTer?
NM_004006.2:c.5048del , LRG_199t1:c.5048del	NP_003997.1:p.Thr1683IlefsTer?
NM_004009.3:c.5036del	NP_004000.1:p.Thr1679IlefsTer?
NM_004010.3:c.4679del	NP_004001.1:p.Thr1560IlefsTer?
NM_004011.3:c.1025del	NP_004002.2:p.Thr342IlefsTer?
NM_004012.3:c.1016del	NP_004003.1:p.Thr339IlefsTer?
XM_006724468.2:c.5048del	XP_006724531.1:p.Thr1683IlefsTer?
XM_006724469.2:c.5024del	XP_006724532.1:p.Thr1675IlefsTer?
XM_006724470.2:c.5048del	XP_006724533.1:p.Thr1683IlefsTer?
XM_006724471.2:c.5048del	XP_006724534.1:p.Thr1683IlefsTer?
XM_006724472.2:c.4919del	XP_006724535.1:p.Thr1640IlefsTer?
XM_006724473.2:c.5048del	XP_006724536.1:p.Thr1683IlefsTer?
XM_006724474.2:c.5048del	XP_006724537.1:p.Thr1683IlefsTer?
XM_006724475.2:c.5048del	XP_006724538.1:p.Thr1683IlefsTer?
XM_011545467.1:c.5048del	XP_011543769.1:p.Thr1683IlefsTer?
XM_011545468.1:c.5048del	XP_011543770.1:p.Thr1683IlefsTer?
XM_011545469.1:c.5048del	XP_011543771.1:p.Thr1683IlefsTer?
XM_006724469.3:c.5024del	XP_006724532.1:p.Thr1675IlefsTer?
XM_006724470.3:c.5048del	XP_006724533.1:p.Thr1683IlefsTer?
XM_006724474.3:c.5048del	XP_006724537.1:p.Thr1683IlefsTer?
XM_011545468.2:c.5048del	XP_011543770.1:p.Thr1683IlefsTer?
XM_017029328.1:c.5048del	XP_016884817.1:p.Thr1683IlefsTer?
XM_017029329.1:c.5048del	XP_016884818.1:p.Thr1683IlefsTer?
XM_017029330.2:c.5048del	XP_016884819.1:p.Thr1683IlefsTer?
NM_000109.4:c.5024del	NP_000100.3:p.Thr1675IlefsTer?
NM_004006.3:c.5048del MANE Select	NP_003997.2:p.Thr1683IlefsTer?
NM_004011.4:c.1025del	NP_004002.3:p.Thr342IlefsTer?
NM_004012.4:c.1016del	NP_004003.2:p.Thr339IlefsTer?