Canonical Allele Identifier: CA2573158660

Gene: DMD

Linked Data

• ClinVar Variation Id: 1452151
• ClinVar RCV Id: RCV002007575
• dbSNP Id: rs2148457026

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287603_32287609del , CM000685.2:g.32287603_32287609del	GRCh38
NC_000023.10:g.32305720_32305726del , CM000685.1:g.32305720_32305726del	GRCh37
NC_000023.9:g.32215641_32215647del	NCBI36
NG_012232.1:g.1057004_1057010del , LRG_199:g.1057004_1057010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1059_1065del	ENSP00000350765.3:p.Arg353SerfsTer?
ENST00000357033.9:c.6213_6219del MANE Select	ENSP00000354923.3:p.Arg2071SerfsTer?
ENST00000619831.5:c.2181_2187del	ENSP00000479270.2:p.Arg727SerfsTer?
ENST00000357033.8:c.6213_6219del	ENSP00000354923.3:p.Arg2071SerfsTer?
ENST00000378677.6:c.6201_6207del	ENSP00000367948.2:p.Arg2067SerfsTer?
ENST00000488902.5:n.336-70543_336-70537del
ENST00000619831.4:c.6201_6207del	ENSP00000479270.1:p.Arg2067SerfsTer?
ENST00000620040.4:c.6213_6219del	ENSP00000478150.1:p.Arg2071SerfsTer?
NM_000109.3:c.6189_6195del	NP_000100.2:p.Arg2063SerfsTer?
NM_004006.2:c.6213_6219del , LRG_199t1:c.6213_6219del	NP_003997.1:p.Arg2071SerfsTer?
NM_004009.3:c.6201_6207del	NP_004000.1:p.Arg2067SerfsTer?
NM_004010.3:c.5844_5850del	NP_004001.1:p.Arg1948SerfsTer?
NM_004011.3:c.2190_2196del	NP_004002.2:p.Arg730SerfsTer?
NM_004012.3:c.2181_2187del	NP_004003.1:p.Arg727SerfsTer?
XM_006724468.2:c.6213_6219del	XP_006724531.1:p.Arg2071SerfsTer?
XM_006724469.2:c.6189_6195del	XP_006724532.1:p.Arg2063SerfsTer?
XM_006724470.2:c.6213_6219del	XP_006724533.1:p.Arg2071SerfsTer?
XM_006724471.2:c.6213_6219del	XP_006724534.1:p.Arg2071SerfsTer?
XM_006724472.2:c.6084_6090del	XP_006724535.1:p.Arg2028SerfsTer?
XM_006724473.2:c.6075_6081del	XP_006724536.1:p.Arg2025SerfsTer?
XM_006724474.2:c.6213_6219del	XP_006724537.1:p.Arg2071SerfsTer?
XM_006724475.2:c.6213_6219del	XP_006724538.1:p.Arg2071SerfsTer?
XM_011545467.1:c.6090_6096del	XP_011543769.1:p.Arg2030SerfsTer?
XM_011545468.1:c.6213_6219del	XP_011543770.1:p.Arg2071SerfsTer?
XM_006724469.3:c.6189_6195del	XP_006724532.1:p.Arg2063SerfsTer?
XM_006724470.3:c.6213_6219del	XP_006724533.1:p.Arg2071SerfsTer?
XM_006724474.3:c.6213_6219del	XP_006724537.1:p.Arg2071SerfsTer?
XM_011545468.2:c.6213_6219del	XP_011543770.1:p.Arg2071SerfsTer?
XM_017029328.1:c.6213_6219del	XP_016884817.1:p.Arg2071SerfsTer?
XM_017029329.1:c.6213_6219del	XP_016884818.1:p.Arg2071SerfsTer?
XM_017029330.2:c.6213_6219del	XP_016884819.1:p.Arg2071SerfsTer?
XM_017029331.1:c.387_393del	XP_016884820.1:p.Arg129SerfsTer?
NM_000109.4:c.6189_6195del	NP_000100.3:p.Arg2063SerfsTer?
NM_004006.3:c.6213_6219del MANE Select	NP_003997.2:p.Arg2071SerfsTer?
NM_004011.4:c.2190_2196del	NP_004002.3:p.Arg730SerfsTer?
NM_004012.4:c.2181_2187del	NP_004003.2:p.Arg727SerfsTer?