Canonical Allele Identifier: CA267045

Gene: DMD

Linked Data

• dbSNP Id: rs398123972
• MyVariant Identifiers: chrX:g.32383191_32383236dup (hg19) ; chrX:g.32383191_32383236dup46 (hg19) ; chrX:g.32383190_32383191insATTCAGAAGACTGAGTTTATCTTCCACCAACGTCTCCTTCTTGCCC (hg19) ; chrX:g.32365074_32365119dup46 (hg38) ; chrX:g.32365073_32365074insATTCAGAAGACTGAGTTTATCTTCCACCAACGTCTCCTTCTTGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365075_32365120dup , CM000685.2:g.32365075_32365120dup	GRCh38
NC_000023.10:g.32383192_32383237dup , CM000685.1:g.32383192_32383237dup	GRCh37
NC_000023.9:g.32293113_32293158dup	NCBI36
NG_012232.1:g.979491_979536dup , LRG_199:g.979491_979536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4926_4971dup MANE Select	ENSP00000354923.3:p.Ser1658GlyfsTer10
ENST00000619831.5:c.894_939dup	ENSP00000479270.2:p.Ser314GlyfsTer10
ENST00000357033.8:c.4926_4971dup	ENSP00000354923.3:p.Ser1658GlyfsTer10
ENST00000378677.6:c.4914_4959dup	ENSP00000367948.2:p.Ser1654GlyfsTer10
ENST00000420596.5:c.174_219dup	ENSP00000399897.1:p.Ser74GlyfsTer10
ENST00000448370.5:c.94-409_94-364dup	ENSP00000388559.1:n.94-409_94-364dup
ENST00000488902.5:n.336-148056_336-148011dup
ENST00000619831.4:c.4914_4959dup	ENSP00000479270.1:p.Ser1654GlyfsTer10
ENST00000620040.4:c.4926_4971dup	ENSP00000478150.1:p.Ser1658GlyfsTer10
NM_000109.3:c.4902_4947dup	NP_000100.2:p.Ser1650GlyfsTer10
NM_004006.2:c.4926_4971dup , LRG_199t1:c.4926_4971dup	NP_003997.1:p.Ser1658GlyfsTer10
NM_004009.3:c.4914_4959dup	NP_004000.1:p.Ser1654GlyfsTer10
NM_004010.3:c.4557_4602dup	NP_004001.1:p.Ser1535GlyfsTer10
NM_004011.3:c.903_948dup	NP_004002.2:p.Ser317GlyfsTer10
NM_004012.3:c.894_939dup	NP_004003.1:p.Ser314GlyfsTer10
XM_006724468.2:c.4926_4971dup	XP_006724531.1:p.Ser1658GlyfsTer10
XM_006724469.2:c.4902_4947dup	XP_006724532.1:p.Ser1650GlyfsTer10
XM_006724470.2:c.4926_4971dup	XP_006724533.1:p.Ser1658GlyfsTer10
XM_006724471.2:c.4926_4971dup	XP_006724534.1:p.Ser1658GlyfsTer10
XM_006724472.2:c.4797_4842dup	XP_006724535.1:p.Ser1615GlyfsTer10
XM_006724473.2:c.4926_4971dup	XP_006724536.1:p.Ser1658GlyfsTer10
XM_006724474.2:c.4926_4971dup	XP_006724537.1:p.Ser1658GlyfsTer10
XM_006724475.2:c.4926_4971dup	XP_006724538.1:p.Ser1658GlyfsTer10
XM_011545467.1:c.4926_4971dup	XP_011543769.1:p.Ser1658GlyfsTer10
XM_011545468.1:c.4926_4971dup	XP_011543770.1:p.Ser1658GlyfsTer10
XM_011545469.1:c.4926_4971dup	XP_011543771.1:p.Ser1658GlyfsTer10
XM_006724469.3:c.4902_4947dup	XP_006724532.1:p.Ser1650GlyfsTer10
XM_006724470.3:c.4926_4971dup	XP_006724533.1:p.Ser1658GlyfsTer10
XM_006724474.3:c.4926_4971dup	XP_006724537.1:p.Ser1658GlyfsTer10
XM_011545468.2:c.4926_4971dup	XP_011543770.1:p.Ser1658GlyfsTer10
XM_017029328.1:c.4926_4971dup	XP_016884817.1:p.Ser1658GlyfsTer10
XM_017029329.1:c.4926_4971dup	XP_016884818.1:p.Ser1658GlyfsTer10
XM_017029330.2:c.4926_4971dup	XP_016884819.1:p.Ser1658GlyfsTer10
NM_000109.4:c.4902_4947dup	NP_000100.3:p.Ser1650GlyfsTer10
NM_004006.3:c.4926_4971dup MANE Select	NP_003997.2:p.Ser1658GlyfsTer10
NM_004011.4:c.903_948dup	NP_004002.3:p.Ser317GlyfsTer10
NM_004012.4:c.894_939dup	NP_004003.2:p.Ser314GlyfsTer10