Canonical Allele Identifier: CA16616671

Gene: DMD

Linked Data

• ClinVar Variation Id: 409902
• ClinVar RCV Id: RCV000461657
• dbSNP Id: rs1060502632
• MyVariant Identifiers: chrX:g.32383225_32383228del (hg19) ; chrX:g.32365108_32365111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365110_32365113del , CM000685.2:g.32365110_32365113del	GRCh38
NC_000023.10:g.32383227_32383230del , CM000685.1:g.32383227_32383230del	GRCh37
NC_000023.9:g.32293148_32293151del	NCBI36
NG_012232.1:g.979499_979502del , LRG_199:g.979499_979502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4934_4937del MANE Select	ENSP00000354923.3:p.Lys1645ArgfsTer11
ENST00000619831.5:c.902_905del	ENSP00000479270.2:p.Lys301ArgfsTer11
ENST00000357033.8:c.4934_4937del	ENSP00000354923.3:p.Lys1645ArgfsTer11
ENST00000378677.6:c.4922_4925del	ENSP00000367948.2:p.Lys1641ArgfsTer11
ENST00000420596.5:c.182_185del	ENSP00000399897.1:p.Lys61ArgfsTer11
ENST00000448370.5:c.94-401_94-398del	ENSP00000388559.1:n.94-401_94-398del
ENST00000488902.5:n.336-148048_336-148045del
ENST00000619831.4:c.4922_4925del	ENSP00000479270.1:p.Lys1641ArgfsTer11
ENST00000620040.4:c.4934_4937del	ENSP00000478150.1:p.Lys1645ArgfsTer11
NM_000109.3:c.4910_4913del	NP_000100.2:p.Lys1637ArgfsTer11
NM_004006.2:c.4934_4937del , LRG_199t1:c.4934_4937del	NP_003997.1:p.Lys1645ArgfsTer11
NM_004009.3:c.4922_4925del	NP_004000.1:p.Lys1641ArgfsTer11
NM_004010.3:c.4565_4568del	NP_004001.1:p.Lys1522ArgfsTer11
NM_004011.3:c.911_914del	NP_004002.2:p.Lys304ArgfsTer11
NM_004012.3:c.902_905del	NP_004003.1:p.Lys301ArgfsTer11
XM_006724468.2:c.4934_4937del	XP_006724531.1:p.Lys1645ArgfsTer11
XM_006724469.2:c.4910_4913del	XP_006724532.1:p.Lys1637ArgfsTer11
XM_006724470.2:c.4934_4937del	XP_006724533.1:p.Lys1645ArgfsTer11
XM_006724471.2:c.4934_4937del	XP_006724534.1:p.Lys1645ArgfsTer11
XM_006724472.2:c.4805_4808del	XP_006724535.1:p.Lys1602ArgfsTer11
XM_006724473.2:c.4934_4937del	XP_006724536.1:p.Lys1645ArgfsTer11
XM_006724474.2:c.4934_4937del	XP_006724537.1:p.Lys1645ArgfsTer11
XM_006724475.2:c.4934_4937del	XP_006724538.1:p.Lys1645ArgfsTer11
XM_011545467.1:c.4934_4937del	XP_011543769.1:p.Lys1645ArgfsTer11
XM_011545468.1:c.4934_4937del	XP_011543770.1:p.Lys1645ArgfsTer11
XM_011545469.1:c.4934_4937del	XP_011543771.1:p.Lys1645ArgfsTer11
XM_006724469.3:c.4910_4913del	XP_006724532.1:p.Lys1637ArgfsTer11
XM_006724470.3:c.4934_4937del	XP_006724533.1:p.Lys1645ArgfsTer11
XM_006724474.3:c.4934_4937del	XP_006724537.1:p.Lys1645ArgfsTer11
XM_011545468.2:c.4934_4937del	XP_011543770.1:p.Lys1645ArgfsTer11
XM_017029328.1:c.4934_4937del	XP_016884817.1:p.Lys1645ArgfsTer11
XM_017029329.1:c.4934_4937del	XP_016884818.1:p.Lys1645ArgfsTer11
XM_017029330.2:c.4934_4937del	XP_016884819.1:p.Lys1645ArgfsTer11
NM_000109.4:c.4910_4913del	NP_000100.3:p.Lys1637ArgfsTer11
NM_004006.3:c.4934_4937del MANE Select	NP_003997.2:p.Lys1645ArgfsTer11
NM_004011.4:c.911_914del	NP_004002.3:p.Lys304ArgfsTer11
NM_004012.4:c.902_905del	NP_004003.2:p.Lys301ArgfsTer11