Canonical Allele Identifier: CA645619990

Gene: DMD

Linked Data

• COSMIC: COSM5757530 ; COSM5757531 ; COSM5757532 ; COSM5757533

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365123dup , CM000685.2:g.32365123dup	GRCh38
NC_000023.10:g.32383240dup , CM000685.1:g.32383240dup	GRCh37
NC_000023.9:g.32293161dup	NCBI36
NG_012232.1:g.979490dup , LRG_199:g.979490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4925dup MANE Select	ENSP00000354923.3:p.Leu1642PhefsTer11
ENST00000619831.5:c.893dup	ENSP00000479270.2:p.Leu298PhefsTer11
ENST00000357033.8:c.4925dup	ENSP00000354923.3:p.Leu1642PhefsTer11
ENST00000378677.6:c.4913dup	ENSP00000367948.2:p.Leu1638PhefsTer11
ENST00000420596.5:c.173dup	ENSP00000399897.1:p.Leu58PhefsTer11
ENST00000448370.5:c.94-410dup	ENSP00000388559.1:n.94-410dup
ENST00000488902.5:n.336-148057dup
ENST00000619831.4:c.4913dup	ENSP00000479270.1:p.Leu1638PhefsTer11
ENST00000620040.4:c.4925dup	ENSP00000478150.1:p.Leu1642PhefsTer11
NM_000109.3:c.4901dup	NP_000100.2:p.Leu1634PhefsTer11
NM_004006.2:c.4925dup , LRG_199t1:c.4925dup	NP_003997.1:p.Leu1642PhefsTer11
NM_004009.3:c.4913dup	NP_004000.1:p.Leu1638PhefsTer11
NM_004010.3:c.4556dup	NP_004001.1:p.Leu1519PhefsTer11
NM_004011.3:c.902dup	NP_004002.2:p.Leu301PhefsTer11
NM_004012.3:c.893dup	NP_004003.1:p.Leu298PhefsTer11
XM_006724468.2:c.4925dup	XP_006724531.1:p.Leu1642PhefsTer11
XM_006724469.2:c.4901dup	XP_006724532.1:p.Leu1634PhefsTer11
XM_006724470.2:c.4925dup	XP_006724533.1:p.Leu1642PhefsTer11
XM_006724471.2:c.4925dup	XP_006724534.1:p.Leu1642PhefsTer11
XM_006724472.2:c.4796dup	XP_006724535.1:p.Leu1599PhefsTer11
XM_006724473.2:c.4925dup	XP_006724536.1:p.Leu1642PhefsTer11
XM_006724474.2:c.4925dup	XP_006724537.1:p.Leu1642PhefsTer11
XM_006724475.2:c.4925dup	XP_006724538.1:p.Leu1642PhefsTer11
XM_011545467.1:c.4925dup	XP_011543769.1:p.Leu1642PhefsTer11
XM_011545468.1:c.4925dup	XP_011543770.1:p.Leu1642PhefsTer11
XM_011545469.1:c.4925dup	XP_011543771.1:p.Leu1642PhefsTer11
XM_006724469.3:c.4901dup	XP_006724532.1:p.Leu1634PhefsTer11
XM_006724470.3:c.4925dup	XP_006724533.1:p.Leu1642PhefsTer11
XM_006724474.3:c.4925dup	XP_006724537.1:p.Leu1642PhefsTer11
XM_011545468.2:c.4925dup	XP_011543770.1:p.Leu1642PhefsTer11
XM_017029328.1:c.4925dup	XP_016884817.1:p.Leu1642PhefsTer11
XM_017029329.1:c.4925dup	XP_016884818.1:p.Leu1642PhefsTer11
XM_017029330.2:c.4925dup	XP_016884819.1:p.Leu1642PhefsTer11
NM_000109.4:c.4901dup	NP_000100.3:p.Leu1634PhefsTer11
NM_004006.3:c.4925dup MANE Select	NP_003997.2:p.Leu1642PhefsTer11
NM_004011.4:c.902dup	NP_004002.3:p.Leu301PhefsTer11
NM_004012.4:c.893dup	NP_004003.2:p.Leu298PhefsTer11