Canonical Allele Identifier: CA2695232089

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32644156_32644157dup , CM000685.2:g.32644156_32644157dup	GRCh38
NC_000023.10:g.32662273_32662274dup , CM000685.1:g.32662273_32662274dup	GRCh37
NC_000023.9:g.32572194_32572195dup	NCBI36
NG_012232.1:g.700453_700454dup , LRG_199:g.700453_700454dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682071.1:c.937_938dup	ENSP00000508133.1:p.Ala314Ter
ENST00000682899.1:n.1513_1514dup
ENST00000682924.1:c.1306_1307dup	ENSP00000508187.1:p.Ala437Ter
ENST00000683985.1:n.1513_1514dup
ENST00000684165.1:n.1513_1514dup
ENST00000684237.1:c.1177_1178dup	ENSP00000507277.1:p.Ala394Ter
ENST00000684292.1:n.1513_1514dup
ENST00000288447.9:c.1282_1283dup	ENSP00000288447.4:p.Ala429Ter
ENST00000357033.9:c.1306_1307dup MANE Select	ENSP00000354923.3:p.Ala437Ter
ENST00000288447.8:c.1282_1283dup	ENSP00000288447.4:p.Ala429Ter
ENST00000357033.8:c.1306_1307dup	ENSP00000354923.3:p.Ala437Ter
ENST00000378677.6:c.1294_1295dup	ENSP00000367948.2:p.Ala433Ter
ENST00000420596.5:c.94-278958_94-278957dup	ENSP00000399897.1:n.94-278958_94-278957dup
ENST00000447523.1:c.247-70311_247-70310dup	ENSP00000395904.1:n.247-70311_247-70310dup
ENST00000448370.5:c.94-279447_94-279446dup	ENSP00000388559.1:n.94-279447_94-279446dup
ENST00000480751.1:n.87-70311_87-70310dup
ENST00000488902.5:n.335+375982_335+375983dup
ENST00000619831.4:c.1294_1295dup	ENSP00000479270.1:p.Ala433Ter
ENST00000620040.4:c.1306_1307dup	ENSP00000478150.1:p.Ala437Ter
NM_000109.3:c.1282_1283dup	NP_000100.2:p.Ala429Ter
NM_004006.2:c.1306_1307dup , LRG_199t1:c.1306_1307dup	NP_003997.1:p.Ala437Ter
NM_004009.3:c.1294_1295dup	NP_004000.1:p.Ala433Ter
NM_004010.3:c.937_938dup	NP_004001.1:p.Ala314Ter
XM_006724468.2:c.1306_1307dup	XP_006724531.1:p.Ala437Ter
XM_006724469.2:c.1282_1283dup	XP_006724532.1:p.Ala429Ter
XM_006724470.2:c.1306_1307dup	XP_006724533.1:p.Ala437Ter
XM_006724471.2:c.1306_1307dup	XP_006724534.1:p.Ala437Ter
XM_006724472.2:c.1177_1178dup	XP_006724535.1:p.Ala394Ter
XM_006724473.2:c.1306_1307dup	XP_006724536.1:p.Ala437Ter
XM_006724474.2:c.1306_1307dup	XP_006724537.1:p.Ala437Ter
XM_006724475.2:c.1306_1307dup	XP_006724538.1:p.Ala437Ter
XM_011545467.1:c.1306_1307dup	XP_011543769.1:p.Ala437Ter
XM_011545468.1:c.1306_1307dup	XP_011543770.1:p.Ala437Ter
XM_011545469.1:c.1306_1307dup	XP_011543771.1:p.Ala437Ter
XM_006724469.3:c.1282_1283dup	XP_006724532.1:p.Ala429Ter
XM_006724470.3:c.1306_1307dup	XP_006724533.1:p.Ala437Ter
XM_006724474.3:c.1306_1307dup	XP_006724537.1:p.Ala437Ter
XM_011545468.2:c.1306_1307dup	XP_011543770.1:p.Ala437Ter
XM_017029328.1:c.1306_1307dup	XP_016884817.1:p.Ala437Ter
XM_017029329.1:c.1306_1307dup	XP_016884818.1:p.Ala437Ter
XM_017029330.2:c.1306_1307dup	XP_016884819.1:p.Ala437Ter
NM_000109.4:c.1282_1283dup	NP_000100.3:p.Ala429Ter
NM_004006.3:c.1306_1307dup MANE Select	NP_003997.2:p.Ala437Ter