Canonical Allele Identifier: CA2695232021

Gene: DMD

Linked Data

• ClinVar Variation Id: 2688960
• ClinVar RCV Id: RCV003490707

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32491277_32491281del , CM000685.2:g.32491277_32491281del	GRCh38
NC_000023.10:g.32509394_32509398del , CM000685.1:g.32509394_32509398del	GRCh37
NC_000023.9:g.32419315_32419319del	NCBI36
NG_012232.1:g.853334_853338del , LRG_199:g.853334_853338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.2829+1_2829+5del
ENST00000683985.1:n.2829+1_2829+5del
ENST00000357033.9:c.2622+1_2622+5del
ENST00000357033.8:c.2622+1_2622+5del
ENST00000378677.6:c.2610+1_2610+5del
ENST00000420596.5:c.94-126077_94-126073del	ENSP00000399897.1:n.94-126077_94-126073del
ENST00000448370.5:c.94-126566_94-126562del	ENSP00000388559.1:n.94-126566_94-126562del
ENST00000488902.5:n.336-274213_336-274209del
ENST00000619831.4:c.2610+1_2610+5del
ENST00000620040.4:c.2622+1_2622+5del
NM_000109.3:c.2598+1_2598+5del
NM_004006.2:c.2622+1_2622+5del , LRG_199t1:c.2622+1_2622+5del
NM_004009.3:c.2610+1_2610+5del
NM_004010.3:c.2253+1_2253+5del
XM_006724468.2:c.2622+1_2622+5del
XM_006724469.2:c.2598+1_2598+5del
XM_006724470.2:c.2622+1_2622+5del
XM_006724471.2:c.2622+1_2622+5del
XM_006724472.2:c.2493+1_2493+5del
XM_006724473.2:c.2622+1_2622+5del
XM_006724474.2:c.2622+1_2622+5del
XM_006724475.2:c.2622+1_2622+5del
XM_011545467.1:c.2622+1_2622+5del
XM_011545468.1:c.2622+1_2622+5del
XM_011545469.1:c.2622+1_2622+5del
XM_006724469.3:c.2598+1_2598+5del
XM_006724470.3:c.2622+1_2622+5del
XM_006724474.3:c.2622+1_2622+5del
XM_011545468.2:c.2622+1_2622+5del
XM_017029328.1:c.2622+1_2622+5del
XM_017029329.1:c.2622+1_2622+5del
XM_017029330.2:c.2622+1_2622+5del
NM_000109.4:c.2598+1_2598+5del
NM_004006.3:c.2622+1_2622+5del