Canonical Allele Identifier: CA16043315

Gene: DMD

Linked Data

• ClinVar Variation Id: 373208
• ClinVar RCV Id: RCV000412908
• dbSNP Id: rs1057518284
• MyVariant Identifiers: chrX:g.32481622_32481623dupCT (hg19) ; chrX:g.32481621_32481622insCT (hg19) ; chrX:g.32463505_32463506dupCT (hg38) ; chrX:g.32463504_32463505insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32463507_32463508dup , CM000685.2:g.32463507_32463508dup	GRCh38
NC_000023.10:g.32481624_32481625dup , CM000685.1:g.32481624_32481625dup	GRCh37
NC_000023.9:g.32391545_32391546dup	NCBI36
NG_012232.1:g.881104_881105dup , LRG_199:g.881104_881105dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682899.1:n.3572_3573dup
ENST00000357033.9:c.3365_3366dup MANE Select	ENSP00000354923.3:p.Phe1123SerfsTer?
ENST00000357033.8:c.3365_3366dup	ENSP00000354923.3:p.Phe1123SerfsTer?
ENST00000378677.6:c.3353_3354dup	ENSP00000367948.2:p.Phe1119SerfsTer?
ENST00000420596.5:c.94-98307_94-98306dup	ENSP00000399897.1:n.94-98307_94-98306dup
ENST00000448370.5:c.94-98796_94-98795dup	ENSP00000388559.1:n.94-98796_94-98795dup
ENST00000488902.5:n.336-246443_336-246442dup
ENST00000619831.4:c.3353_3354dup	ENSP00000479270.1:p.Phe1119SerfsTer?
ENST00000620040.4:c.3365_3366dup	ENSP00000478150.1:p.Phe1123SerfsTer?
NM_000109.3:c.3341_3342dup	NP_000100.2:p.Phe1115SerfsTer?
NM_004006.2:c.3365_3366dup , LRG_199t1:c.3365_3366dup	NP_003997.1:p.Phe1123SerfsTer?
NM_004009.3:c.3353_3354dup	NP_004000.1:p.Phe1119SerfsTer?
NM_004010.3:c.2996_2997dup	NP_004001.1:p.Phe1000SerfsTer?
XM_006724468.2:c.3365_3366dup	XP_006724531.1:p.Phe1123SerfsTer?
XM_006724469.2:c.3341_3342dup	XP_006724532.1:p.Phe1115SerfsTer?
XM_006724470.2:c.3365_3366dup	XP_006724533.1:p.Phe1123SerfsTer?
XM_006724471.2:c.3365_3366dup	XP_006724534.1:p.Phe1123SerfsTer?
XM_006724472.2:c.3236_3237dup	XP_006724535.1:p.Phe1080SerfsTer?
XM_006724473.2:c.3365_3366dup	XP_006724536.1:p.Phe1123SerfsTer?
XM_006724474.2:c.3365_3366dup	XP_006724537.1:p.Phe1123SerfsTer?
XM_006724475.2:c.3365_3366dup	XP_006724538.1:p.Phe1123SerfsTer?
XM_011545467.1:c.3365_3366dup	XP_011543769.1:p.Phe1123SerfsTer?
XM_011545468.1:c.3365_3366dup	XP_011543770.1:p.Phe1123SerfsTer?
XM_011545469.1:c.3365_3366dup	XP_011543771.1:p.Phe1123SerfsTer?
XM_006724469.3:c.3341_3342dup	XP_006724532.1:p.Phe1115SerfsTer?
XM_006724470.3:c.3365_3366dup	XP_006724533.1:p.Phe1123SerfsTer?
XM_006724474.3:c.3365_3366dup	XP_006724537.1:p.Phe1123SerfsTer?
XM_011545468.2:c.3365_3366dup	XP_011543770.1:p.Phe1123SerfsTer?
XM_017029328.1:c.3365_3366dup	XP_016884817.1:p.Phe1123SerfsTer?
XM_017029329.1:c.3365_3366dup	XP_016884818.1:p.Phe1123SerfsTer?
XM_017029330.2:c.3365_3366dup	XP_016884819.1:p.Phe1123SerfsTer?
NM_000109.4:c.3341_3342dup	NP_000100.3:p.Phe1115SerfsTer?
NM_004006.3:c.3365_3366dup MANE Select	NP_003997.2:p.Phe1123SerfsTer?