Canonical Allele Identifier: CA2739268180

Gene: DMD

Linked Data

• ClinVar Variation Id: 2861912
• ClinVar RCV Id: RCV003623424

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343271_32343273del , CM000685.2:g.32343271_32343273del	GRCh38
NC_000023.10:g.32361388_32361390del , CM000685.1:g.32361388_32361390del	GRCh37
NC_000023.9:g.32271309_32271311del	NCBI36
NG_012232.1:g.1001337_1001339del , LRG_199:g.1001337_1001339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.446_448del	ENSP00000350765.3:p.Gln149del
ENST00000357033.9:c.5600_5602del MANE Select	ENSP00000354923.3:p.Gln1867del
ENST00000619831.5:c.1568_1570del	ENSP00000479270.2:p.Gln523del
ENST00000357033.8:c.5600_5602del	ENSP00000354923.3:p.Gln1867del
ENST00000378677.6:c.5588_5590del	ENSP00000367948.2:p.Gln1863del
ENST00000488902.5:n.336-126210_336-126208del
ENST00000493412.1:c.257_259del	ENSP00000417725.1:p.Gln86del
ENST00000619831.4:c.5588_5590del	ENSP00000479270.1:p.Gln1863del
ENST00000620040.4:c.5600_5602del	ENSP00000478150.1:p.Gln1867del
NM_000109.3:c.5576_5578del	NP_000100.2:p.Gln1859del
NM_004006.2:c.5600_5602del , LRG_199t1:c.5600_5602del	NP_003997.1:p.Gln1867del
NM_004009.3:c.5588_5590del	NP_004000.1:p.Gln1863del
NM_004010.3:c.5231_5233del	NP_004001.1:p.Gln1744del
NM_004011.3:c.1577_1579del	NP_004002.2:p.Gln526del
NM_004012.3:c.1568_1570del	NP_004003.1:p.Gln523del
XM_006724468.2:c.5600_5602del	XP_006724531.1:p.Gln1867del
XM_006724469.2:c.5576_5578del	XP_006724532.1:p.Gln1859del
XM_006724470.2:c.5600_5602del	XP_006724533.1:p.Gln1867del
XM_006724471.2:c.5600_5602del	XP_006724534.1:p.Gln1867del
XM_006724472.2:c.5471_5473del	XP_006724535.1:p.Gln1824del
XM_006724473.2:c.5462_5464del	XP_006724536.1:p.Gln1821del
XM_006724474.2:c.5600_5602del	XP_006724537.1:p.Gln1867del
XM_006724475.2:c.5600_5602del	XP_006724538.1:p.Gln1867del
XM_011545467.1:c.5477_5479del	XP_011543769.1:p.Gln1826del
XM_011545468.1:c.5600_5602del	XP_011543770.1:p.Gln1867del
XM_011545469.1:c.5600_5602del	XP_011543771.1:p.Gln1867del
XM_006724469.3:c.5576_5578del	XP_006724532.1:p.Gln1859del
XM_006724470.3:c.5600_5602del	XP_006724533.1:p.Gln1867del
XM_006724474.3:c.5600_5602del	XP_006724537.1:p.Gln1867del
XM_011545468.2:c.5600_5602del	XP_011543770.1:p.Gln1867del
XM_017029328.1:c.5600_5602del	XP_016884817.1:p.Gln1867del
XM_017029329.1:c.5600_5602del	XP_016884818.1:p.Gln1867del
XM_017029330.2:c.5600_5602del	XP_016884819.1:p.Gln1867del
NM_000109.4:c.5576_5578del	NP_000100.3:p.Gln1859del
NM_004006.3:c.5600_5602del MANE Select	NP_003997.2:p.Gln1867del
NM_004011.4:c.1577_1579del	NP_004002.3:p.Gln526del
NM_004012.4:c.1568_1570del	NP_004003.2:p.Gln523del