Canonical Allele Identifier: CA2573055283

Gene: DMD

Linked Data

• ClinVar Variation Id: 1342918
• ClinVar RCV Id: RCV001843341
• dbSNP Id: rs2148427910

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464656del , CM000685.2:g.32464656del	GRCh38
NC_000023.10:g.32482773del , CM000685.1:g.32482773del	GRCh37
NC_000023.9:g.32392694del	NCBI36
NG_012232.1:g.879958del , LRG_199:g.879958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3417del
ENST00000357033.9:c.3210del MANE Select	ENSP00000354923.3:p.Leu1071Ter
ENST00000357033.8:c.3210del	ENSP00000354923.3:p.Leu1071Ter
ENST00000378677.6:c.3198del	ENSP00000367948.2:p.Leu1067Ter
ENST00000420596.5:c.94-99453del	ENSP00000399897.1:n.94-99453del
ENST00000448370.5:c.94-99942del	ENSP00000388559.1:n.94-99942del
ENST00000488902.5:n.336-247589del
ENST00000619831.4:c.3198del	ENSP00000479270.1:p.Leu1067Ter
ENST00000620040.4:c.3210del	ENSP00000478150.1:p.Leu1071Ter
NM_000109.3:c.3186del	NP_000100.2:p.Leu1063Ter
NM_004006.2:c.3210del , LRG_199t1:c.3210del	NP_003997.1:p.Leu1071Ter
NM_004009.3:c.3198del	NP_004000.1:p.Leu1067Ter
NM_004010.3:c.2841del	NP_004001.1:p.Leu948Ter
XM_006724468.2:c.3210del	XP_006724531.1:p.Leu1071Ter
XM_006724469.2:c.3186del	XP_006724532.1:p.Leu1063Ter
XM_006724470.2:c.3210del	XP_006724533.1:p.Leu1071Ter
XM_006724471.2:c.3210del	XP_006724534.1:p.Leu1071Ter
XM_006724472.2:c.3081del	XP_006724535.1:p.Leu1028Ter
XM_006724473.2:c.3210del	XP_006724536.1:p.Leu1071Ter
XM_006724474.2:c.3210del	XP_006724537.1:p.Leu1071Ter
XM_006724475.2:c.3210del	XP_006724538.1:p.Leu1071Ter
XM_011545467.1:c.3210del	XP_011543769.1:p.Leu1071Ter
XM_011545468.1:c.3210del	XP_011543770.1:p.Leu1071Ter
XM_011545469.1:c.3210del	XP_011543771.1:p.Leu1071Ter
XM_006724469.3:c.3186del	XP_006724532.1:p.Leu1063Ter
XM_006724470.3:c.3210del	XP_006724533.1:p.Leu1071Ter
XM_006724474.3:c.3210del	XP_006724537.1:p.Leu1071Ter
XM_011545468.2:c.3210del	XP_011543770.1:p.Leu1071Ter
XM_017029328.1:c.3210del	XP_016884817.1:p.Leu1071Ter
XM_017029329.1:c.3210del	XP_016884818.1:p.Leu1071Ter
XM_017029330.2:c.3210del	XP_016884819.1:p.Leu1071Ter
NM_000109.4:c.3186del	NP_000100.3:p.Leu1063Ter
NM_004006.3:c.3210del MANE Select	NP_003997.2:p.Leu1071Ter