Canonical Allele Identifier: CA2580616942

Gene: DMD

Linked Data

• ClinVar Variation Id: 2572633
• ClinVar RCV Id: RCV003314518

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464632_32464636del , CM000685.2:g.32464632_32464636del	GRCh38
NC_000023.10:g.32482749_32482753del , CM000685.1:g.32482749_32482753del	GRCh37
NC_000023.9:g.32392670_32392674del	NCBI36
NG_012232.1:g.879977_879981del , LRG_199:g.879977_879981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3436_3440del
ENST00000357033.9:c.3229_3233del MANE Select	ENSP00000354923.3:p.Ala1077TrpfsTer19
ENST00000357033.8:c.3229_3233del	ENSP00000354923.3:p.Ala1077TrpfsTer19
ENST00000378677.6:c.3217_3221del	ENSP00000367948.2:p.Ala1073TrpfsTer19
ENST00000420596.5:c.94-99434_94-99430del	ENSP00000399897.1:n.94-99434_94-99430del
ENST00000448370.5:c.94-99923_94-99919del	ENSP00000388559.1:n.94-99923_94-99919del
ENST00000488902.5:n.336-247570_336-247566del
ENST00000619831.4:c.3217_3221del	ENSP00000479270.1:p.Ala1073TrpfsTer19
ENST00000620040.4:c.3229_3233del	ENSP00000478150.1:p.Ala1077TrpfsTer19
NM_000109.3:c.3205_3209del	NP_000100.2:p.Ala1069TrpfsTer19
NM_004006.2:c.3229_3233del , LRG_199t1:c.3229_3233del	NP_003997.1:p.Ala1077TrpfsTer19
NM_004009.3:c.3217_3221del	NP_004000.1:p.Ala1073TrpfsTer19
NM_004010.3:c.2860_2864del	NP_004001.1:p.Ala954TrpfsTer19
XM_006724468.2:c.3229_3233del	XP_006724531.1:p.Ala1077TrpfsTer19
XM_006724469.2:c.3205_3209del	XP_006724532.1:p.Ala1069TrpfsTer19
XM_006724470.2:c.3229_3233del	XP_006724533.1:p.Ala1077TrpfsTer19
XM_006724471.2:c.3229_3233del	XP_006724534.1:p.Ala1077TrpfsTer19
XM_006724472.2:c.3100_3104del	XP_006724535.1:p.Ala1034TrpfsTer19
XM_006724473.2:c.3229_3233del	XP_006724536.1:p.Ala1077TrpfsTer19
XM_006724474.2:c.3229_3233del	XP_006724537.1:p.Ala1077TrpfsTer19
XM_006724475.2:c.3229_3233del	XP_006724538.1:p.Ala1077TrpfsTer19
XM_011545467.1:c.3229_3233del	XP_011543769.1:p.Ala1077TrpfsTer19
XM_011545468.1:c.3229_3233del	XP_011543770.1:p.Ala1077TrpfsTer19
XM_011545469.1:c.3229_3233del	XP_011543771.1:p.Ala1077TrpfsTer19
XM_006724469.3:c.3205_3209del	XP_006724532.1:p.Ala1069TrpfsTer19
XM_006724470.3:c.3229_3233del	XP_006724533.1:p.Ala1077TrpfsTer19
XM_006724474.3:c.3229_3233del	XP_006724537.1:p.Ala1077TrpfsTer19
XM_011545468.2:c.3229_3233del	XP_011543770.1:p.Ala1077TrpfsTer19
XM_017029328.1:c.3229_3233del	XP_016884817.1:p.Ala1077TrpfsTer19
XM_017029329.1:c.3229_3233del	XP_016884818.1:p.Ala1077TrpfsTer19
XM_017029330.2:c.3229_3233del	XP_016884819.1:p.Ala1077TrpfsTer19
NM_000109.4:c.3205_3209del	NP_000100.3:p.Ala1069TrpfsTer19
NM_004006.3:c.3229_3233del MANE Select	NP_003997.2:p.Ala1077TrpfsTer19