Canonical Allele Identifier: CA915950938

Gene: DMD

Linked Data

• ClinVar Variation Id: 817691
• ClinVar RCV Id: RCV001008897
• dbSNP Id: rs1602937725

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444528_31444535del , CM000685.2:g.31444528_31444535del	GRCh38
NC_000023.10:g.31462645_31462652del , CM000685.1:g.31462645_31462652del	GRCh37
NC_000023.9:g.31372566_31372573del	NCBI36
NG_012232.1:g.1900078_1900085del , LRG_199:g.1900078_1900085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3879_3886del	ENSP00000350765.3:p.Tyr1294GlnfsTer26
ENST00000682238.1:c.1653_1660del	ENSP00000508124.1:p.Tyr552GlnfsTer26
ENST00000683450.1:n.2498_2505del
ENST00000683957.1:n.2525_2532del
ENST00000684130.1:c.1653_1660del	ENSP00000508037.1:p.Tyr552GlnfsTer26
ENST00000343523.7:c.888_895del	ENSP00000340057.4:p.Tyr297GlnfsTer26
ENST00000357033.9:c.9033_9040del MANE Select	ENSP00000354923.3:p.Tyr3012GlnfsTer26
ENST00000619831.5:c.5001_5008del	ENSP00000479270.2:p.Tyr1668GlnfsTer26
ENST00000620040.5:c.1653_1660del	ENSP00000478150.2:p.Tyr552GlnfsTer26
ENST00000680961.1:c.1653_1660del	ENSP00000506386.1:p.Tyr552GlnfsTer26
ENST00000681646.1:n.2694_2701del
ENST00000343523.6:c.846_853del	ENSP00000340057.3:p.Tyr283GlnfsTer26
ENST00000357033.8:c.9033_9040del	ENSP00000354923.3:p.Tyr3012GlnfsTer26
ENST00000358062.6:c.2121_2128del	ENSP00000350765.2:p.Tyr708GlnfsTer26
ENST00000359836.5:c.1653_1660del	ENSP00000352894.1:p.Tyr552GlnfsTer26
ENST00000378677.6:c.9021_9028del	ENSP00000367948.2:p.Tyr3008GlnfsTer26
ENST00000378707.7:c.1653_1660del	ENSP00000367979.3:p.Tyr552GlnfsTer26
ENST00000474231.5:c.1653_1660del	ENSP00000417123.1:p.Tyr552GlnfsTer26
ENST00000541735.5:c.1653_1660del	ENSP00000444119.1:p.Tyr552GlnfsTer26
ENST00000619831.4:c.9018_9025del	ENSP00000479270.1:p.Tyr3007GlnfsTer26
ENST00000620040.4:c.9030_9037del	ENSP00000478150.1:p.Tyr3011GlnfsTer26
NM_000109.3:c.9009_9016del	NP_000100.2:p.Tyr3004GlnfsTer26
NM_004006.2:c.9033_9040del , LRG_199t1:c.9033_9040del	NP_003997.1:p.Tyr3012GlnfsTer26
NM_004009.3:c.9021_9028del	NP_004000.1:p.Tyr3008GlnfsTer26
NM_004010.3:c.8664_8671del	NP_004001.1:p.Tyr2889GlnfsTer26
NM_004011.3:c.5010_5017del	NP_004002.2:p.Tyr1671GlnfsTer26
NM_004012.3:c.5001_5008del	NP_004003.1:p.Tyr1668GlnfsTer26
NM_004013.2:c.1653_1660del	NP_004004.1:p.Tyr552GlnfsTer26
NM_004014.2:c.846_853del	NP_004005.1:p.Tyr283GlnfsTer26
NM_004020.3:c.1653_1660del	NP_004011.2:p.Tyr552GlnfsTer26
NM_004021.2:c.1653_1660del	NP_004012.1:p.Tyr552GlnfsTer26
NM_004022.2:c.1653_1660del	NP_004013.1:p.Tyr552GlnfsTer26
NM_004023.2:c.1653_1660del	NP_004014.1:p.Tyr552GlnfsTer26
XM_006724468.2:c.9033_9040del	XP_006724531.1:p.Tyr3012GlnfsTer26
XM_006724469.2:c.9009_9016del	XP_006724532.1:p.Tyr3004GlnfsTer26
XM_006724470.2:c.9033_9040del	XP_006724533.1:p.Tyr3012GlnfsTer26
XM_006724471.2:c.9033_9040del	XP_006724534.1:p.Tyr3012GlnfsTer26
XM_006724472.2:c.8904_8911del	XP_006724535.1:p.Tyr2969GlnfsTer26
XM_006724473.2:c.8895_8902del	XP_006724536.1:p.Tyr2966GlnfsTer26
XM_006724474.2:c.9033_9040del	XP_006724537.1:p.Tyr3012GlnfsTer26
XM_006724475.2:c.9033_9040del	XP_006724538.1:p.Tyr3012GlnfsTer26
XM_011545467.1:c.8910_8917del	XP_011543769.1:p.Tyr2971GlnfsTer26
XM_011545468.1:c.9033_9040del	XP_011543770.1:p.Tyr3012GlnfsTer26
XM_006724469.3:c.9009_9016del	XP_006724532.1:p.Tyr3004GlnfsTer26
XM_006724470.3:c.9033_9040del	XP_006724533.1:p.Tyr3012GlnfsTer26
XM_006724474.3:c.9033_9040del	XP_006724537.1:p.Tyr3012GlnfsTer26
XM_011545468.2:c.9033_9040del	XP_011543770.1:p.Tyr3012GlnfsTer26
XM_017029328.1:c.9033_9040del	XP_016884817.1:p.Tyr3012GlnfsTer26
XM_017029331.1:c.3207_3214del	XP_016884820.1:p.Tyr1070GlnfsTer26
NM_000109.4:c.9009_9016del	NP_000100.3:p.Tyr3004GlnfsTer26
NM_004006.3:c.9033_9040del MANE Select	NP_003997.2:p.Tyr3012GlnfsTer26
NM_004011.4:c.5010_5017del	NP_004002.3:p.Tyr1671GlnfsTer26
NM_004012.4:c.5001_5008del	NP_004003.2:p.Tyr1668GlnfsTer26
NM_004021.3:c.1653_1660del	NP_004012.2:p.Tyr552GlnfsTer26
NM_004023.3:c.1653_1660del	NP_004014.2:p.Tyr552GlnfsTer26
NM_004013.3:c.1653_1660del	NP_004004.2:p.Tyr552GlnfsTer26
NM_004014.3:c.846_853del	NP_004005.2:p.Tyr283GlnfsTer26
NM_004020.4:c.1653_1660del	NP_004011.3:p.Tyr552GlnfsTer26
NM_004022.3:c.1653_1660del	NP_004013.2:p.Tyr552GlnfsTer26