Canonical Allele Identifier: CA658658961

Gene: DMD

Linked Data

• ClinVar Variation Id: 455913
• ClinVar RCV Id: RCV000554463
• dbSNP Id: rs1557291170
• MyVariant Identifiers: chrX:g.32361350_32361377del (hg19) ; chrX:g.32343233_32343260del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343233_32343260del , CM000685.2:g.32343233_32343260del	GRCh38
NC_000023.10:g.32361350_32361377del , CM000685.1:g.32361350_32361377del	GRCh37
NC_000023.9:g.32271271_32271298del	NCBI36
NG_012232.1:g.1001350_1001377del , LRG_199:g.1001350_1001377del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.459_486del	ENSP00000350765.3:p.Lys153AsnfsTer11
ENST00000357033.9:c.5613_5640del MANE Select	ENSP00000354923.3:p.Lys1871AsnfsTer11
ENST00000619831.5:c.1581_1608del	ENSP00000479270.2:p.Lys527AsnfsTer11
ENST00000357033.8:c.5613_5640del	ENSP00000354923.3:p.Lys1871AsnfsTer11
ENST00000378677.6:c.5601_5628del	ENSP00000367948.2:p.Lys1867AsnfsTer11
ENST00000488902.5:n.336-126197_336-126170del
ENST00000493412.1:c.270_297del	ENSP00000417725.1:p.Lys90AsnfsTer11
ENST00000619831.4:c.5601_5628del	ENSP00000479270.1:p.Lys1867AsnfsTer11
ENST00000620040.4:c.5613_5640del	ENSP00000478150.1:p.Lys1871AsnfsTer11
NM_000109.3:c.5589_5616del	NP_000100.2:p.Lys1863AsnfsTer11
NM_004006.2:c.5613_5640del , LRG_199t1:c.5613_5640del	NP_003997.1:p.Lys1871AsnfsTer11
NM_004009.3:c.5601_5628del	NP_004000.1:p.Lys1867AsnfsTer11
NM_004010.3:c.5244_5271del	NP_004001.1:p.Lys1748AsnfsTer11
NM_004011.3:c.1590_1617del	NP_004002.2:p.Lys530AsnfsTer11
NM_004012.3:c.1581_1608del	NP_004003.1:p.Lys527AsnfsTer11
XM_006724468.2:c.5613_5640del	XP_006724531.1:p.Lys1871AsnfsTer11
XM_006724469.2:c.5589_5616del	XP_006724532.1:p.Lys1863AsnfsTer11
XM_006724470.2:c.5613_5640del	XP_006724533.1:p.Lys1871AsnfsTer11
XM_006724471.2:c.5613_5640del	XP_006724534.1:p.Lys1871AsnfsTer11
XM_006724472.2:c.5484_5511del	XP_006724535.1:p.Lys1828AsnfsTer11
XM_006724473.2:c.5475_5502del	XP_006724536.1:p.Lys1825AsnfsTer11
XM_006724474.2:c.5613_5640del	XP_006724537.1:p.Lys1871AsnfsTer11
XM_006724475.2:c.5613_5640del	XP_006724538.1:p.Lys1871AsnfsTer11
XM_011545467.1:c.5490_5517del	XP_011543769.1:p.Lys1830AsnfsTer11
XM_011545468.1:c.5613_5640del	XP_011543770.1:p.Lys1871AsnfsTer11
XM_011545469.1:c.5613_5640del	XP_011543771.1:p.Lys1871AsnfsTer11
XM_006724469.3:c.5589_5616del	XP_006724532.1:p.Lys1863AsnfsTer11
XM_006724470.3:c.5613_5640del	XP_006724533.1:p.Lys1871AsnfsTer11
XM_006724474.3:c.5613_5640del	XP_006724537.1:p.Lys1871AsnfsTer11
XM_011545468.2:c.5613_5640del	XP_011543770.1:p.Lys1871AsnfsTer11
XM_017029328.1:c.5613_5640del	XP_016884817.1:p.Lys1871AsnfsTer11
XM_017029329.1:c.5613_5640del	XP_016884818.1:p.Lys1871AsnfsTer11
XM_017029330.2:c.5613_5640del	XP_016884819.1:p.Lys1871AsnfsTer11
NM_000109.4:c.5589_5616del	NP_000100.3:p.Lys1863AsnfsTer11
NM_004006.3:c.5613_5640del MANE Select	NP_003997.2:p.Lys1871AsnfsTer11
NM_004011.4:c.1590_1617del	NP_004002.3:p.Lys530AsnfsTer11
NM_004012.4:c.1581_1608del	NP_004003.2:p.Lys527AsnfsTer11