Canonical Allele Identifier: CA2573158784

Gene: DMD

Linked Data

• ClinVar Variation Id: 1480235
• ClinVar RCV Id: RCV001991245
• dbSNP Id: rs2146989498

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343133_32343138del , CM000685.2:g.32343133_32343138del	GRCh38
NC_000023.10:g.32361250_32361255del , CM000685.1:g.32361250_32361255del	GRCh37
NC_000023.9:g.32271171_32271176del	NCBI36
NG_012232.1:g.1001475_1001480del , LRG_199:g.1001475_1001480del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.584_585+4del
ENST00000357033.9:c.5738_5739+4del
ENST00000619831.5:c.1706_1707+4del
ENST00000357033.8:c.5738_5739+4del
ENST00000378677.6:c.5726_5727+4del
ENST00000488902.5:n.336-126072_336-126067del
ENST00000493412.1:c.395_396+4del
ENST00000619831.4:c.5726_5727+4del
ENST00000620040.4:c.5738_5739+4del
NM_000109.3:c.5714_5715+4del
NM_004006.2:c.5738_5739+4del , LRG_199t1:c.5738_5739+4del
NM_004009.3:c.5726_5727+4del
NM_004010.3:c.5369_5370+4del
NM_004011.3:c.1715_1716+4del
NM_004012.3:c.1706_1707+4del
XM_006724468.2:c.5738_5739+4del
XM_006724469.2:c.5714_5715+4del
XM_006724470.2:c.5738_5739+4del
XM_006724471.2:c.5738_5739+4del
XM_006724472.2:c.5609_5610+4del
XM_006724473.2:c.5600_5601+4del
XM_006724474.2:c.5738_5739+4del
XM_006724475.2:c.5738_5739+4del
XM_011545467.1:c.5615_5616+4del
XM_011545468.1:c.5738_5739+4del
XM_011545469.1:c.5738_5739+4del
XM_006724469.3:c.5714_5715+4del
XM_006724470.3:c.5738_5739+4del
XM_006724474.3:c.5738_5739+4del
XM_011545468.2:c.5738_5739+4del
XM_017029328.1:c.5738_5739+4del
XM_017029329.1:c.5738_5739+4del
XM_017029330.2:c.5738_5739+4del
NM_000109.4:c.5714_5715+4del
NM_004006.3:c.5738_5739+4del
NM_004011.4:c.1715_1716+4del
NM_004012.4:c.1706_1707+4del