Canonical Allele Identifier: CA2422434044

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444525G= , CM000685.2:g.31444525G=	GRCh38
NC_000023.10:g.31462642G= , CM000685.1:g.31462642G=	GRCh37
NC_000023.9:g.31372563G=	NCBI36
NG_012232.1:g.1900085C= , LRG_199:g.1900085C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3886C=	ENSP00000350765.3:p.Leu1296=
ENST00000682238.1:c.1660C=	ENSP00000508124.1:p.Leu554=
ENST00000683450.1:n.2505C=
ENST00000683957.1:n.2532C=
ENST00000684130.1:c.1660C=	ENSP00000508037.1:p.Leu554=
ENST00000343523.7:c.895C=	ENSP00000340057.4:p.Leu299=
ENST00000357033.9:c.9040C= MANE Select	ENSP00000354923.3:p.Leu3014=
ENST00000619831.5:c.5008C=	ENSP00000479270.2:p.Leu1670=
ENST00000620040.5:c.1660C=	ENSP00000478150.2:p.Leu554=
ENST00000680961.1:c.1660C=	ENSP00000506386.1:p.Leu554=
ENST00000681646.1:n.2701C=
ENST00000343523.6:c.853C=	ENSP00000340057.3:p.Leu285=
ENST00000357033.8:c.9040C=	ENSP00000354923.3:p.Leu3014=
ENST00000358062.6:c.2128C=	ENSP00000350765.2:p.Leu710=
ENST00000359836.5:c.1660C=	ENSP00000352894.1:p.Leu554=
ENST00000378677.6:c.9028C=	ENSP00000367948.2:p.Leu3010=
ENST00000378707.7:c.1660C=	ENSP00000367979.3:p.Leu554=
ENST00000474231.5:c.1660C=	ENSP00000417123.1:p.Leu554=
ENST00000541735.5:c.1660C=	ENSP00000444119.1:p.Leu554=
ENST00000619831.4:c.9025C=	ENSP00000479270.1:p.Leu3009=
ENST00000620040.4:c.9037C=	ENSP00000478150.1:p.Leu3013=
NM_000109.3:c.9016C=	NP_000100.2:p.Leu3006=
NM_004006.2:c.9040C= , LRG_199t1:c.9040C=	NP_003997.1:p.Leu3014=
NM_004009.3:c.9028C=	NP_004000.1:p.Leu3010=
NM_004010.3:c.8671C=	NP_004001.1:p.Leu2891=
NM_004011.3:c.5017C=	NP_004002.2:p.Leu1673=
NM_004012.3:c.5008C=	NP_004003.1:p.Leu1670=
NM_004013.2:c.1660C=	NP_004004.1:p.Leu554=
NM_004014.2:c.853C=	NP_004005.1:p.Leu285=
NM_004020.3:c.1660C=	NP_004011.2:p.Leu554=
NM_004021.2:c.1660C=	NP_004012.1:p.Leu554=
NM_004022.2:c.1660C=	NP_004013.1:p.Leu554=
NM_004023.2:c.1660C=	NP_004014.1:p.Leu554=
XM_006724468.2:c.9040C=	XP_006724531.1:p.Leu3014=
XM_006724469.2:c.9016C=	XP_006724532.1:p.Leu3006=
XM_006724470.2:c.9040C=	XP_006724533.1:p.Leu3014=
XM_006724471.2:c.9040C=	XP_006724534.1:p.Leu3014=
XM_006724472.2:c.8911C=	XP_006724535.1:p.Leu2971=
XM_006724473.2:c.8902C=	XP_006724536.1:p.Leu2968=
XM_006724474.2:c.9040C=	XP_006724537.1:p.Leu3014=
XM_006724475.2:c.9040C=	XP_006724538.1:p.Leu3014=
XM_011545467.1:c.8917C=	XP_011543769.1:p.Leu2973=
XM_011545468.1:c.9040C=	XP_011543770.1:p.Leu3014=
XM_006724469.3:c.9016C=	XP_006724532.1:p.Leu3006=
XM_006724470.3:c.9040C=	XP_006724533.1:p.Leu3014=
XM_006724474.3:c.9040C=	XP_006724537.1:p.Leu3014=
XM_011545468.2:c.9040C=	XP_011543770.1:p.Leu3014=
XM_017029328.1:c.9040C=	XP_016884817.1:p.Leu3014=
XM_017029331.1:c.3214C=	XP_016884820.1:p.Leu1072=
NM_000109.4:c.9016C=	NP_000100.3:p.Leu3006=
NM_004006.3:c.9040C= MANE Select	NP_003997.2:p.Leu3014=
NM_004011.4:c.5017C=	NP_004002.3:p.Leu1673=
NM_004012.4:c.5008C=	NP_004003.2:p.Leu1670=
NM_004021.3:c.1660C=	NP_004012.2:p.Leu554=
NM_004023.3:c.1660C=	NP_004014.2:p.Leu554=
NM_004013.3:c.1660C=	NP_004004.2:p.Leu554=
NM_004014.3:c.853C=	NP_004005.2:p.Leu285=
NM_004020.4:c.1660C=	NP_004011.3:p.Leu554=
NM_004022.3:c.1660C=	NP_004013.2:p.Leu554=