Canonical Allele Identifier: CA2695232715

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287616_32287618delinsTGGG , CM000685.2:g.32287616_32287618delinsTGGG	GRCh38
NC_000023.10:g.32305733_32305735delinsTGGG , CM000685.1:g.32305733_32305735delinsTGGG	GRCh37
NC_000023.9:g.32215654_32215656delinsTGGG	NCBI36
NG_012232.1:g.1056992_1056994delinsCCCA , LRG_199:g.1056992_1056994delinsCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1047_1049delinsCCCA	ENSP00000350765.3:p.Val351CysfsTer14
ENST00000357033.9:c.6201_6203delinsCCCA MANE Select	ENSP00000354923.3:p.Val2069CysfsTer14
ENST00000619831.5:c.2169_2171delinsCCCA	ENSP00000479270.2:p.Val725CysfsTer14
ENST00000357033.8:c.6201_6203delinsCCCA	ENSP00000354923.3:p.Val2069CysfsTer14
ENST00000378677.6:c.6189_6191delinsCCCA	ENSP00000367948.2:p.Val2065CysfsTer14
ENST00000488902.5:n.336-70555_336-70553delinsCCCA
ENST00000619831.4:c.6189_6191delinsCCCA	ENSP00000479270.1:p.Val2065CysfsTer14
ENST00000620040.4:c.6201_6203delinsCCCA	ENSP00000478150.1:p.Val2069CysfsTer14
NM_000109.3:c.6177_6179delinsCCCA	NP_000100.2:p.Val2061CysfsTer14
NM_004006.2:c.6201_6203delinsCCCA , LRG_199t1:c.6201_6203delinsCCCA	NP_003997.1:p.Val2069CysfsTer14
NM_004009.3:c.6189_6191delinsCCCA	NP_004000.1:p.Val2065CysfsTer14
NM_004010.3:c.5832_5834delinsCCCA	NP_004001.1:p.Val1946CysfsTer14
NM_004011.3:c.2178_2180delinsCCCA	NP_004002.2:p.Val728CysfsTer14
NM_004012.3:c.2169_2171delinsCCCA	NP_004003.1:p.Val725CysfsTer14
XM_006724468.2:c.6201_6203delinsCCCA	XP_006724531.1:p.Val2069CysfsTer14
XM_006724469.2:c.6177_6179delinsCCCA	XP_006724532.1:p.Val2061CysfsTer14
XM_006724470.2:c.6201_6203delinsCCCA	XP_006724533.1:p.Val2069CysfsTer14
XM_006724471.2:c.6201_6203delinsCCCA	XP_006724534.1:p.Val2069CysfsTer14
XM_006724472.2:c.6072_6074delinsCCCA	XP_006724535.1:p.Val2026CysfsTer14
XM_006724473.2:c.6063_6065delinsCCCA	XP_006724536.1:p.Val2023CysfsTer14
XM_006724474.2:c.6201_6203delinsCCCA	XP_006724537.1:p.Val2069CysfsTer14
XM_006724475.2:c.6201_6203delinsCCCA	XP_006724538.1:p.Val2069CysfsTer14
XM_011545467.1:c.6078_6080delinsCCCA	XP_011543769.1:p.Val2028CysfsTer14
XM_011545468.1:c.6201_6203delinsCCCA	XP_011543770.1:p.Val2069CysfsTer14
XM_006724469.3:c.6177_6179delinsCCCA	XP_006724532.1:p.Val2061CysfsTer14
XM_006724470.3:c.6201_6203delinsCCCA	XP_006724533.1:p.Val2069CysfsTer14
XM_006724474.3:c.6201_6203delinsCCCA	XP_006724537.1:p.Val2069CysfsTer14
XM_011545468.2:c.6201_6203delinsCCCA	XP_011543770.1:p.Val2069CysfsTer14
XM_017029328.1:c.6201_6203delinsCCCA	XP_016884817.1:p.Val2069CysfsTer14
XM_017029329.1:c.6201_6203delinsCCCA	XP_016884818.1:p.Val2069CysfsTer14
XM_017029330.2:c.6201_6203delinsCCCA	XP_016884819.1:p.Val2069CysfsTer14
XM_017029331.1:c.375_377delinsCCCA	XP_016884820.1:p.Val127CysfsTer14
NM_000109.4:c.6177_6179delinsCCCA	NP_000100.3:p.Val2061CysfsTer14
NM_004006.3:c.6201_6203delinsCCCA MANE Select	NP_003997.2:p.Val2069CysfsTer14
NM_004011.4:c.2178_2180delinsCCCA	NP_004002.3:p.Val728CysfsTer14
NM_004012.4:c.2169_2171delinsCCCA	NP_004003.2:p.Val725CysfsTer14