Canonical Allele Identifier: CA2580616951
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1684688
ClinVar RCV Id: RCV002247780
dbSNP Id: rs2146818031

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32644130_32644133del , CM000685.2:g.32644130_32644133del GRCh38
NC_000023.10:g.32662247_32662250del , CM000685.1:g.32662247_32662250del GRCh37
NC_000023.9:g.32572168_32572171del NCBI36
NG_012232.1:g.700481_700484del , LRG_199:g.700481_700484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682071.1:c.962+3_962+6del
ENST00000682899.1:n.1538+3_1538+6del
ENST00000682924.1:c.1331+3_1331+6del
ENST00000683985.1:n.1538+3_1538+6del
ENST00000684165.1:n.1538+3_1538+6del
ENST00000684237.1:c.1202+3_1202+6del
ENST00000684292.1:n.1538+3_1538+6del
ENST00000288447.9:c.1307+3_1307+6del
ENST00000357033.9:c.1331+3_1331+6del
ENST00000288447.8:c.1307+3_1307+6del
ENST00000357033.8:c.1331+3_1331+6del
ENST00000378677.6:c.1319+3_1319+6del
ENST00000420596.5:c.94-278930_94-278927del ENSP00000399897.1:n.94-278930_94-278927del
ENST00000447523.1:c.247-70283_247-70280del ENSP00000395904.1:n.247-70283_247-70280del
ENST00000448370.5:c.94-279419_94-279416del ENSP00000388559.1:n.94-279419_94-279416del
ENST00000480751.1:n.87-70283_87-70280del
ENST00000488902.5:n.335+376010_335+376013del
ENST00000619831.4:c.1319+3_1319+6del
ENST00000620040.4:c.1331+3_1331+6del
NM_000109.3:c.1307+3_1307+6del
NM_004006.2:c.1331+3_1331+6del , LRG_199t1:c.1331+3_1331+6del
NM_004009.3:c.1319+3_1319+6del
NM_004010.3:c.962+3_962+6del
XM_006724468.2:c.1331+3_1331+6del
XM_006724469.2:c.1307+3_1307+6del
XM_006724470.2:c.1331+3_1331+6del
XM_006724471.2:c.1331+3_1331+6del
XM_006724472.2:c.1202+3_1202+6del
XM_006724473.2:c.1331+3_1331+6del
XM_006724474.2:c.1331+3_1331+6del
XM_006724475.2:c.1331+3_1331+6del
XM_011545467.1:c.1331+3_1331+6del
XM_011545468.1:c.1331+3_1331+6del
XM_011545469.1:c.1331+3_1331+6del
XM_006724469.3:c.1307+3_1307+6del
XM_006724470.3:c.1331+3_1331+6del
XM_006724474.3:c.1331+3_1331+6del
XM_011545468.2:c.1331+3_1331+6del
XM_017029328.1:c.1331+3_1331+6del
XM_017029329.1:c.1331+3_1331+6del
XM_017029330.2:c.1331+3_1331+6del
NM_000109.4:c.1307+3_1307+6del
NM_004006.3:c.1331+3_1331+6del