Canonical Allele Identifier: CA658799650

Gene: DMD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32463507_32463508del , CM000685.2:g.32463507_32463508del	GRCh38
NC_000023.10:g.32481624_32481625del , CM000685.1:g.32481624_32481625del	GRCh37
NC_000023.9:g.32391545_32391546del	NCBI36
NG_012232.1:g.881104_881105del , LRG_199:g.881104_881105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3572_3573del
ENST00000357033.9:c.3365_3366del MANE Select	ENSP00000354923.3:p.Glu1122ValfsTer6
ENST00000357033.8:c.3365_3366del	ENSP00000354923.3:p.Glu1122ValfsTer6
ENST00000378677.6:c.3353_3354del	ENSP00000367948.2:p.Glu1118ValfsTer6
ENST00000420596.5:c.94-98307_94-98306del	ENSP00000399897.1:n.94-98307_94-98306del
ENST00000448370.5:c.94-98796_94-98795del	ENSP00000388559.1:n.94-98796_94-98795del
ENST00000488902.5:n.336-246443_336-246442del
ENST00000619831.4:c.3353_3354del	ENSP00000479270.1:p.Glu1118ValfsTer6
ENST00000620040.4:c.3365_3366del	ENSP00000478150.1:p.Glu1122ValfsTer6
NM_000109.3:c.3341_3342del	NP_000100.2:p.Glu1114ValfsTer6
NM_004006.2:c.3365_3366del , LRG_199t1:c.3365_3366del	NP_003997.1:p.Glu1122ValfsTer6
NM_004009.3:c.3353_3354del	NP_004000.1:p.Glu1118ValfsTer6
NM_004010.3:c.2996_2997del	NP_004001.1:p.Glu999ValfsTer6
XM_006724468.2:c.3365_3366del	XP_006724531.1:p.Glu1122ValfsTer6
XM_006724469.2:c.3341_3342del	XP_006724532.1:p.Glu1114ValfsTer6
XM_006724470.2:c.3365_3366del	XP_006724533.1:p.Glu1122ValfsTer6
XM_006724471.2:c.3365_3366del	XP_006724534.1:p.Glu1122ValfsTer6
XM_006724472.2:c.3236_3237del	XP_006724535.1:p.Glu1079ValfsTer6
XM_006724473.2:c.3365_3366del	XP_006724536.1:p.Glu1122ValfsTer6
XM_006724474.2:c.3365_3366del	XP_006724537.1:p.Glu1122ValfsTer6
XM_006724475.2:c.3365_3366del	XP_006724538.1:p.Glu1122ValfsTer6
XM_011545467.1:c.3365_3366del	XP_011543769.1:p.Glu1122ValfsTer6
XM_011545468.1:c.3365_3366del	XP_011543770.1:p.Glu1122ValfsTer6
XM_011545469.1:c.3365_3366del	XP_011543771.1:p.Glu1122ValfsTer6
XM_006724469.3:c.3341_3342del	XP_006724532.1:p.Glu1114ValfsTer6
XM_006724470.3:c.3365_3366del	XP_006724533.1:p.Glu1122ValfsTer6
XM_006724474.3:c.3365_3366del	XP_006724537.1:p.Glu1122ValfsTer6
XM_011545468.2:c.3365_3366del	XP_011543770.1:p.Glu1122ValfsTer6
XM_017029328.1:c.3365_3366del	XP_016884817.1:p.Glu1122ValfsTer6
XM_017029329.1:c.3365_3366del	XP_016884818.1:p.Glu1122ValfsTer6
XM_017029330.2:c.3365_3366del	XP_016884819.1:p.Glu1122ValfsTer6
NM_000109.4:c.3341_3342del	NP_000100.3:p.Glu1114ValfsTer6
NM_004006.3:c.3365_3366del MANE Select	NP_003997.2:p.Glu1122ValfsTer6