Canonical Allele Identifier: CA274909

Gene: DMD

Linked Data

• ClinVar Variation Id: 193266
• ClinVar RCV Id: RCV000173318
• dbSNP Id: rs796065325
• MyVariant Identifiers: chrX:g.33229415_33229416delinsA (hg19) ; chrX:g.33211298_33211299delinsA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.33211298_33211299delinsA , CM000685.2:g.33211298_33211299delinsA	GRCh38
NC_000023.10:g.33229415_33229416delinsA , CM000685.1:g.33229415_33229416delinsA	GRCh37
NC_000023.9:g.33139336_33139337delinsA	NCBI36
NG_012232.1:g.133311_133312delinsT , LRG_199:g.133311_133312delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000463609.2:n.198_199delinsT
ENST00000682071.1:c.-518_-517delinsT	ENSP00000508133.1:n.-518_-517delinsT
ENST00000682307.1:n.198_199delinsT
ENST00000682437.1:n.198_199delinsT
ENST00000682439.1:n.198_199delinsT
ENST00000682584.1:n.198_199delinsT
ENST00000682870.1:n.199_200delinsT
ENST00000682899.1:n.221_222delinsT
ENST00000682924.1:c.14_15delinsT	ENSP00000508187.1:p.Glu5ValfsTer3
ENST00000683309.1:n.198_199delinsT
ENST00000683658.1:n.197_198delinsT
ENST00000683985.1:n.221_222delinsT
ENST00000684056.1:n.198_199delinsT
ENST00000684165.1:n.221_222delinsT
ENST00000684237.1:c.14_15delinsT	ENSP00000507277.1:p.Glu5ValfsTer3
ENST00000684292.1:n.221_222delinsT
ENST00000684357.1:n.198_199delinsT
ENST00000684660.1:n.199_200delinsT
ENST00000288447.9:c.7+127960_7+127961delinsT	ENSP00000288447.4:n.7+127960_7+127961deli...
ENST00000357033.9:c.14_15delinsT MANE Select	ENSP00000354923.3:p.Glu5ValfsTer3
ENST00000288447.8:c.7+127960_7+127961delinsT	ENSP00000288447.4:n.7+127960_7+127961deli...
ENST00000357033.8:c.14_15delinsT	ENSP00000354923.3:p.Glu5ValfsTer3
ENST00000420596.5:c.14_15delinsT	ENSP00000399897.1:p.Glu5ValfsTer3
ENST00000448370.5:c.14_15delinsT	ENSP00000388559.1:p.Glu5ValfsTer3
ENST00000463609.1:n.134_135delinsT
ENST00000488902.5:n.256_257delinsT
ENST00000620040.4:c.14_15delinsT	ENSP00000478150.1:p.Glu5ValfsTer3
NM_000109.3:c.7+127960_7+127961delinsT	NP_000100.2:n.7+127960_7+127961delinsT
NM_004006.2:c.14_15delinsT , LRG_199t1:c.14_15delinsT	NP_003997.1:p.Glu5ValfsTer3
XM_006724468.2:c.14_15delinsT	XP_006724531.1:p.Glu5ValfsTer3
XM_006724469.2:c.7+127960_7+127961delinsT	XP_006724532.1:n.7+127960_7+127961delinsT...
XM_006724470.2:c.14_15delinsT	XP_006724533.1:p.Glu5ValfsTer3
XM_006724471.2:c.14_15delinsT	XP_006724534.1:p.Glu5ValfsTer3
XM_006724472.2:c.14_15delinsT	XP_006724535.1:p.Glu5ValfsTer3
XM_006724473.2:c.14_15delinsT	XP_006724536.1:p.Glu5ValfsTer3
XM_006724474.2:c.14_15delinsT	XP_006724537.1:p.Glu5ValfsTer3
XM_006724475.2:c.14_15delinsT	XP_006724538.1:p.Glu5ValfsTer3
XM_011545467.1:c.14_15delinsT	XP_011543769.1:p.Glu5ValfsTer3
XM_011545468.1:c.14_15delinsT	XP_011543770.1:p.Glu5ValfsTer3
XM_011545469.1:c.14_15delinsT	XP_011543771.1:p.Glu5ValfsTer3
XM_006724469.3:c.7+127960_7+127961delinsT	XP_006724532.1:n.7+127960_7+127961delinsT...
XM_006724470.3:c.14_15delinsT	XP_006724533.1:p.Glu5ValfsTer3
XM_006724474.3:c.14_15delinsT	XP_006724537.1:p.Glu5ValfsTer3
XM_011545468.2:c.14_15delinsT	XP_011543770.1:p.Glu5ValfsTer3
XM_017029328.1:c.14_15delinsT	XP_016884817.1:p.Glu5ValfsTer3
XM_017029329.1:c.14_15delinsT	XP_016884818.1:p.Glu5ValfsTer3
XM_017029330.2:c.14_15delinsT	XP_016884819.1:p.Glu5ValfsTer3
NM_000109.4:c.7+127960_7+127961delinsT	NP_000100.3:n.7+127960_7+127961delinsT
NM_004006.3:c.14_15delinsT MANE Select	NP_003997.2:p.Glu5ValfsTer3