Canonical Allele Identifier: CA2739273349

Gene: DMD

Linked Data

• ClinVar Variation Id: 2813166
• ClinVar RCV Id: RCV003622625

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32699100_32699144del , CM000685.2:g.32699100_32699144del	GRCh38
NC_000023.10:g.32717217_32717261del , CM000685.1:g.32717217_32717261del	GRCh37
NC_000023.9:g.32627138_32627182del	NCBI36
NG_012232.1:g.645466_645510del , LRG_199:g.645466_645510del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682071.1:c.430_462+12del
ENST00000682870.1:n.984_1016+12del
ENST00000682899.1:n.1006_1038+12del
ENST00000682924.1:c.799_831+12del
ENST00000683985.1:n.1006_1038+12del
ENST00000684165.1:n.1006_1038+12del
ENST00000684237.1:c.799_831+12del
ENST00000684292.1:n.1006_1038+12del
ENST00000684660.1:n.984_1028del
ENST00000288447.9:c.775_807+12del
ENST00000357033.9:c.799_831+12del
ENST00000288447.8:c.775_807+12del
ENST00000357033.8:c.799_831+12del
ENST00000378677.6:c.787_819+12del
ENST00000420596.5:c.93+320995_93+321039del	ENSP00000399897.1:n.93+320995_93+321039de...
ENST00000447523.1:c.246+124151_246+124195del	ENSP00000395904.1:n.246+124151_246+124195...
ENST00000448370.5:c.93+320995_93+321039del	ENSP00000388559.1:n.93+320995_93+321039de...
ENST00000480751.1:n.86+117324_86+117368del
ENST00000488902.5:n.335+320995_335+321039del
ENST00000619831.4:c.787_819+12del
ENST00000620040.4:c.799_831+12del
NM_000109.3:c.775_807+12del
NM_004006.2:c.799_831+12del , LRG_199t1:c.799_831+12del
NM_004009.3:c.787_819+12del
NM_004010.3:c.430_462+12del
XM_006724468.2:c.799_831+12del
XM_006724469.2:c.775_807+12del
XM_006724470.2:c.799_831+12del
XM_006724471.2:c.799_831+12del
XM_006724472.2:c.799_831+12del
XM_006724473.2:c.799_831+12del
XM_006724474.2:c.799_831+12del
XM_006724475.2:c.799_831+12del
XM_011545467.1:c.799_831+12del
XM_011545468.1:c.799_831+12del
XM_011545469.1:c.799_831+12del
XM_006724469.3:c.775_807+12del
XM_006724470.3:c.799_831+12del
XM_006724474.3:c.799_831+12del
XM_011545468.2:c.799_831+12del
XM_017029328.1:c.799_831+12del
XM_017029329.1:c.799_831+12del
XM_017029330.2:c.799_831+12del
NM_000109.4:c.775_807+12del
NM_004006.3:c.799_831+12del