Canonical Allele Identifier: CA2573158844

Gene: DMD

Linked Data

• ClinVar Variation Id: 1361735
• ClinVar RCV Id: RCV001931932
• dbSNP Id: rs398123854

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32644159del , CM000685.2:g.32644159del	GRCh38
NC_000023.10:g.32662276del , CM000685.1:g.32662276del	GRCh37
NC_000023.9:g.32572197del	NCBI36
NG_012232.1:g.700453del , LRG_199:g.700453del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682071.1:c.937del	ENSP00000508133.1:p.Val313Ter
ENST00000682899.1:n.1513del
ENST00000682924.1:c.1306del	ENSP00000508187.1:p.Val436Ter
ENST00000683985.1:n.1513del
ENST00000684165.1:n.1513del
ENST00000684237.1:c.1177del	ENSP00000507277.1:p.Val393Ter
ENST00000684292.1:n.1513del
ENST00000288447.9:c.1282del	ENSP00000288447.4:p.Val428Ter
ENST00000357033.9:c.1306del MANE Select	ENSP00000354923.3:p.Val436Ter
ENST00000288447.8:c.1282del	ENSP00000288447.4:p.Val428Ter
ENST00000357033.8:c.1306del	ENSP00000354923.3:p.Val436Ter
ENST00000378677.6:c.1294del	ENSP00000367948.2:p.Val432Ter
ENST00000420596.5:c.94-278958del	ENSP00000399897.1:n.94-278958del
ENST00000447523.1:c.247-70311del	ENSP00000395904.1:n.247-70311del
ENST00000448370.5:c.94-279447del	ENSP00000388559.1:n.94-279447del
ENST00000480751.1:n.87-70311del
ENST00000488902.5:n.335+375982del
ENST00000619831.4:c.1294del	ENSP00000479270.1:p.Val432Ter
ENST00000620040.4:c.1306del	ENSP00000478150.1:p.Val436Ter
NM_000109.3:c.1282del	NP_000100.2:p.Val428Ter
NM_004006.2:c.1306del , LRG_199t1:c.1306del	NP_003997.1:p.Val436Ter
NM_004009.3:c.1294del	NP_004000.1:p.Val432Ter
NM_004010.3:c.937del	NP_004001.1:p.Val313Ter
XM_006724468.2:c.1306del	XP_006724531.1:p.Val436Ter
XM_006724469.2:c.1282del	XP_006724532.1:p.Val428Ter
XM_006724470.2:c.1306del	XP_006724533.1:p.Val436Ter
XM_006724471.2:c.1306del	XP_006724534.1:p.Val436Ter
XM_006724472.2:c.1177del	XP_006724535.1:p.Val393Ter
XM_006724473.2:c.1306del	XP_006724536.1:p.Val436Ter
XM_006724474.2:c.1306del	XP_006724537.1:p.Val436Ter
XM_006724475.2:c.1306del	XP_006724538.1:p.Val436Ter
XM_011545467.1:c.1306del	XP_011543769.1:p.Val436Ter
XM_011545468.1:c.1306del	XP_011543770.1:p.Val436Ter
XM_011545469.1:c.1306del	XP_011543771.1:p.Val436Ter
XM_006724469.3:c.1282del	XP_006724532.1:p.Val428Ter
XM_006724470.3:c.1306del	XP_006724533.1:p.Val436Ter
XM_006724474.3:c.1306del	XP_006724537.1:p.Val436Ter
XM_011545468.2:c.1306del	XP_011543770.1:p.Val436Ter
XM_017029328.1:c.1306del	XP_016884817.1:p.Val436Ter
XM_017029329.1:c.1306del	XP_016884818.1:p.Val436Ter
XM_017029330.2:c.1306del	XP_016884819.1:p.Val436Ter
NM_000109.4:c.1282del	NP_000100.3:p.Val428Ter
NM_004006.3:c.1306del MANE Select	NP_003997.2:p.Val436Ter