Canonical Allele Identifier: CA2573158743

Gene: DMD

Linked Data

• ClinVar Variation Id: 1685712
• ClinVar RCV Id: RCV002249879
• dbSNP Id: rs2147648412

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31260955_31260962del , CM000685.2:g.31260955_31260962del	GRCh38
NC_000023.10:g.31279072_31279079del , CM000685.1:g.31279072_31279079del	GRCh37
NC_000023.9:g.31188993_31189000del	NCBI36
NG_012232.1:g.2083650_2083657del , LRG_199:g.2083650_2083657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4127_4132+2del
ENST00000680162.2:c.77_82+2del
ENST00000680768.2:c.77_82+2del
ENST00000682238.1:c.1901_1906+2del
ENST00000682322.1:c.77_82+2del
ENST00000682600.1:c.77_82+2del
ENST00000683509.1:n.798_803+2del
ENST00000683675.1:n.380_385+2del
ENST00000683709.1:n.799_804+2del
ENST00000683957.1:n.2773_2778+2del
ENST00000684130.1:c.1901_1906+2del
ENST00000343523.7:c.1136_1141+2del
ENST00000357033.9:c.9281_9286+2del
ENST00000619831.5:c.5249_5254+2del
ENST00000620040.5:c.1901_1906+2del
ENST00000679641.1:c.77_82+2del
ENST00000680216.1:c.57_62+2del
ENST00000680355.1:c.77_82+2del
ENST00000680557.1:c.77_82+2del
ENST00000680768.1:c.20_25+2del
ENST00000680961.1:c.1901_1906+2del
ENST00000681153.1:c.77_82+2del
ENST00000681334.1:c.77_82+2del
ENST00000681646.1:n.2942_2947+2del
ENST00000681654.1:n.211_216+2del
ENST00000681870.1:c.77_82+2del
ENST00000343523.6:c.1094_1099+2del
ENST00000357033.8:c.9281_9286+2del
ENST00000358062.6:c.2369_2374+2del
ENST00000359836.5:c.1901_1906+2del
ENST00000361471.8:c.77_82+2del
ENST00000378677.6:c.9269_9274+2del
ENST00000378680.6:c.77_82+2del
ENST00000378702.8:c.77_82+2del
ENST00000378707.7:c.1901_1906+2del
ENST00000378723.7:c.77_82+2del
ENST00000469142.1:n.300_305+2del
ENST00000474231.5:c.1901_1906+2del
ENST00000541735.5:c.1901_1906+2del
ENST00000619831.4:c.9266_9271+2del
ENST00000620040.4:c.9278_9283+2del
NM_000109.3:c.9257_9262+2del
NM_004006.2:c.9281_9286+2del , LRG_199t1:c.9281_9286+2del
NM_004009.3:c.9269_9274+2del
NM_004010.3:c.8912_8917+2del
NM_004011.3:c.5258_5263+2del
NM_004012.3:c.5249_5254+2del
NM_004013.2:c.1901_1906+2del
NM_004014.2:c.1094_1099+2del
NM_004015.2:c.77_82+2del
NM_004016.2:c.77_82+2del
NM_004017.2:c.77_82+2del
NM_004018.2:c.77_82+2del
NM_004019.2:c.77_82+2del
NM_004020.3:c.1901_1906+2del
NM_004021.2:c.1901_1906+2del
NM_004022.2:c.1901_1906+2del
NM_004023.2:c.1901_1906+2del
XM_006724468.2:c.9281_9286+2del
XM_006724469.2:c.9257_9262+2del
XM_006724470.2:c.9281_9286+2del
XM_006724471.2:c.9281_9286+2del
XM_006724472.2:c.9152_9157+2del
XM_006724473.2:c.9143_9148+2del
XM_006724474.2:c.9281_9286+2del
XM_006724475.2:c.9281_9286+2del
XM_011545467.1:c.9158_9163+2del
XM_011545468.1:c.9281_9286+2del
XM_006724469.3:c.9257_9262+2del
XM_006724470.3:c.9281_9286+2del
XM_006724474.3:c.9281_9286+2del
XM_011545468.2:c.9281_9286+2del
XM_017029328.1:c.9281_9286+2del
XM_017029331.1:c.3455_3460+2del
NM_000109.4:c.9257_9262+2del
NM_004006.3:c.9281_9286+2del
NM_004011.4:c.5258_5263+2del
NM_004012.4:c.5249_5254+2del
NM_004015.3:c.77_82+2del
NM_004016.3:c.77_82+2del
NM_004017.3:c.77_82+2del
NM_004018.3:c.77_82+2del
NM_004019.3:c.77_82+2del
NM_004021.3:c.1901_1906+2del
NM_004023.3:c.1901_1906+2del
NM_004013.3:c.1901_1906+2del
NM_004014.3:c.1094_1099+2del
NM_004020.4:c.1901_1906+2del
NM_004022.3:c.1901_1906+2del