Canonical Allele Identifier: CA2580100624

Gene: DMD

Linked Data

• ClinVar Variation Id: 11259
• ClinVar RCV Id: RCV000012010
• dbSNP Id: rs2148457196

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287619del , CM000685.2:g.32287619del	GRCh38
NC_000023.10:g.32305736del , CM000685.1:g.32305736del	GRCh37
NC_000023.9:g.32215657del	NCBI36
NG_012232.1:g.1056991del , LRG_199:g.1056991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1046del	ENSP00000350765.3:p.Thr349SerfsTer6
ENST00000357033.9:c.6200del MANE Select	ENSP00000354923.3:p.Thr2067SerfsTer6
ENST00000619831.5:c.2168del	ENSP00000479270.2:p.Thr723SerfsTer6
ENST00000357033.8:c.6200del	ENSP00000354923.3:p.Thr2067SerfsTer6
ENST00000378677.6:c.6188del	ENSP00000367948.2:p.Thr2063SerfsTer6
ENST00000488902.5:n.336-70556del
ENST00000619831.4:c.6188del	ENSP00000479270.1:p.Thr2063SerfsTer6
ENST00000620040.4:c.6200del	ENSP00000478150.1:p.Thr2067SerfsTer6
NM_000109.3:c.6176del	NP_000100.2:p.Thr2059SerfsTer6
NM_004006.2:c.6200del , LRG_199t1:c.6200del	NP_003997.1:p.Thr2067SerfsTer6
NM_004009.3:c.6188del	NP_004000.1:p.Thr2063SerfsTer6
NM_004010.3:c.5831del	NP_004001.1:p.Thr1944SerfsTer6
NM_004011.3:c.2177del	NP_004002.2:p.Thr726SerfsTer6
NM_004012.3:c.2168del	NP_004003.1:p.Thr723SerfsTer6
XM_006724468.2:c.6200del	XP_006724531.1:p.Thr2067SerfsTer6
XM_006724469.2:c.6176del	XP_006724532.1:p.Thr2059SerfsTer6
XM_006724470.2:c.6200del	XP_006724533.1:p.Thr2067SerfsTer6
XM_006724471.2:c.6200del	XP_006724534.1:p.Thr2067SerfsTer6
XM_006724472.2:c.6071del	XP_006724535.1:p.Thr2024SerfsTer6
XM_006724473.2:c.6062del	XP_006724536.1:p.Thr2021SerfsTer6
XM_006724474.2:c.6200del	XP_006724537.1:p.Thr2067SerfsTer6
XM_006724475.2:c.6200del	XP_006724538.1:p.Thr2067SerfsTer6
XM_011545467.1:c.6077del	XP_011543769.1:p.Thr2026SerfsTer6
XM_011545468.1:c.6200del	XP_011543770.1:p.Thr2067SerfsTer6
XM_006724469.3:c.6176del	XP_006724532.1:p.Thr2059SerfsTer6
XM_006724470.3:c.6200del	XP_006724533.1:p.Thr2067SerfsTer6
XM_006724474.3:c.6200del	XP_006724537.1:p.Thr2067SerfsTer6
XM_011545468.2:c.6200del	XP_011543770.1:p.Thr2067SerfsTer6
XM_017029328.1:c.6200del	XP_016884817.1:p.Thr2067SerfsTer6
XM_017029329.1:c.6200del	XP_016884818.1:p.Thr2067SerfsTer6
XM_017029330.2:c.6200del	XP_016884819.1:p.Thr2067SerfsTer6
XM_017029331.1:c.374del	XP_016884820.1:p.Thr125SerfsTer6
NM_000109.4:c.6176del	NP_000100.3:p.Thr2059SerfsTer6
NM_004006.3:c.6200del MANE Select	NP_003997.2:p.Thr2067SerfsTer6
NM_004011.4:c.2177del	NP_004002.3:p.Thr726SerfsTer6
NM_004012.4:c.2168del	NP_004003.2:p.Thr723SerfsTer6