Canonical Allele Identifier: CA891844210
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 581591
ClinVar RCV Id: RCV000705468

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32699173_32701121del , CM000685.2:g.32699173_32701121del GRCh38
NC_000023.10:g.32717290_32719238del , CM000685.1:g.32717290_32719238del GRCh37
NC_000023.9:g.32627211_32629159del NCBI36
NG_012232.1:g.643490_645438del , LRG_199:g.643490_645438del

Transcript Alleles

HGVS Amino-acid change
ENST00000682071.1:c.281-1827_402del
ENST00000682870.1:n.835-1827_956del
ENST00000682899.1:n.857-1827_978del
ENST00000682924.1:c.650-1827_771del
ENST00000683985.1:n.857-1827_978del
ENST00000684165.1:n.857-1827_978del
ENST00000684237.1:c.650-1827_771del
ENST00000684292.1:n.857-1827_978del
ENST00000684660.1:n.835-1827_956del
ENST00000288447.9:c.626-1827_747del
ENST00000357033.9:c.650-1827_771del
ENST00000288447.8:c.626-1827_747del
ENST00000357033.8:c.650-1827_771del
ENST00000378677.6:c.638-1827_759del
ENST00000420596.5:c.93+319019_93+320967del ENSP00000399897.1:n.93+319019_93+320967de...
ENST00000447523.1:c.246+122175_246+124123del ENSP00000395904.1:n.246+122175_246+124123...
ENST00000448370.5:c.93+319019_93+320967del ENSP00000388559.1:n.93+319019_93+320967de...
ENST00000480751.1:n.86+115348_86+117296del
ENST00000488902.5:n.335+319019_335+320967del
ENST00000619831.4:c.638-1827_759del
ENST00000620040.4:c.650-1827_771del
NM_000109.3:c.626-1827_747del
NM_004006.2:c.650-1827_771del , LRG_199t1:c.650-1827_771del
NM_004009.3:c.638-1827_759del
NM_004010.3:c.281-1827_402del
XM_006724468.2:c.650-1827_771del
XM_006724469.2:c.626-1827_747del
XM_006724470.2:c.650-1827_771del
XM_006724471.2:c.650-1827_771del
XM_006724472.2:c.650-1827_771del
XM_006724473.2:c.650-1827_771del
XM_006724474.2:c.650-1827_771del
XM_006724475.2:c.650-1827_771del
XM_011545467.1:c.650-1827_771del
XM_011545468.1:c.650-1827_771del
XM_011545469.1:c.650-1827_771del
XM_006724469.3:c.626-1827_747del
XM_006724470.3:c.650-1827_771del
XM_006724474.3:c.650-1827_771del
XM_011545468.2:c.650-1827_771del
XM_017029328.1:c.650-1827_771del
XM_017029329.1:c.650-1827_771del
XM_017029330.2:c.650-1827_771del
NM_000109.4:c.626-1827_747del
NM_004006.3:c.650-1827_771del