Canonical Allele Identifier: CA2580100727

Gene: DMD

Linked Data

• ClinVar Variation Id: 2122330
• ClinVar RCV Id: RCV003046813

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464647_32464649del , CM000685.2:g.32464647_32464649del	GRCh38
NC_000023.10:g.32482764_32482766del , CM000685.1:g.32482764_32482766del	GRCh37
NC_000023.9:g.32392685_32392687del	NCBI36
NG_012232.1:g.879962_879964del , LRG_199:g.879962_879964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3421_3423del
ENST00000357033.9:c.3214_3216del MANE Select	ENSP00000354923.3:p.Lys1072del
ENST00000357033.8:c.3214_3216del	ENSP00000354923.3:p.Lys1072del
ENST00000378677.6:c.3202_3204del	ENSP00000367948.2:p.Lys1068del
ENST00000420596.5:c.94-99449_94-99447del	ENSP00000399897.1:n.94-99449_94-99447del
ENST00000448370.5:c.94-99938_94-99936del	ENSP00000388559.1:n.94-99938_94-99936del
ENST00000488902.5:n.336-247585_336-247583del
ENST00000619831.4:c.3202_3204del	ENSP00000479270.1:p.Lys1068del
ENST00000620040.4:c.3214_3216del	ENSP00000478150.1:p.Lys1072del
NM_000109.3:c.3190_3192del	NP_000100.2:p.Lys1064del
NM_004006.2:c.3214_3216del , LRG_199t1:c.3214_3216del	NP_003997.1:p.Lys1072del
NM_004009.3:c.3202_3204del	NP_004000.1:p.Lys1068del
NM_004010.3:c.2845_2847del	NP_004001.1:p.Lys949del
XM_006724468.2:c.3214_3216del	XP_006724531.1:p.Lys1072del
XM_006724469.2:c.3190_3192del	XP_006724532.1:p.Lys1064del
XM_006724470.2:c.3214_3216del	XP_006724533.1:p.Lys1072del
XM_006724471.2:c.3214_3216del	XP_006724534.1:p.Lys1072del
XM_006724472.2:c.3085_3087del	XP_006724535.1:p.Lys1029del
XM_006724473.2:c.3214_3216del	XP_006724536.1:p.Lys1072del
XM_006724474.2:c.3214_3216del	XP_006724537.1:p.Lys1072del
XM_006724475.2:c.3214_3216del	XP_006724538.1:p.Lys1072del
XM_011545467.1:c.3214_3216del	XP_011543769.1:p.Lys1072del
XM_011545468.1:c.3214_3216del	XP_011543770.1:p.Lys1072del
XM_011545469.1:c.3214_3216del	XP_011543771.1:p.Lys1072del
XM_006724469.3:c.3190_3192del	XP_006724532.1:p.Lys1064del
XM_006724470.3:c.3214_3216del	XP_006724533.1:p.Lys1072del
XM_006724474.3:c.3214_3216del	XP_006724537.1:p.Lys1072del
XM_011545468.2:c.3214_3216del	XP_011543770.1:p.Lys1072del
XM_017029328.1:c.3214_3216del	XP_016884817.1:p.Lys1072del
XM_017029329.1:c.3214_3216del	XP_016884818.1:p.Lys1072del
XM_017029330.2:c.3214_3216del	XP_016884819.1:p.Lys1072del
NM_000109.4:c.3190_3192del	NP_000100.3:p.Lys1064del
NM_004006.3:c.3214_3216del MANE Select	NP_003997.2:p.Lys1072del