Canonical Allele Identifier: CA2573055258

Gene: DMD

Linked Data

• dbSNP Id: rs2149075257

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444525_31444531del , CM000685.2:g.31444525_31444531del	GRCh38
NC_000023.10:g.31462642_31462648del , CM000685.1:g.31462642_31462648del	GRCh37
NC_000023.9:g.31372563_31372569del	NCBI36
NG_012232.1:g.1900080_1900086del , LRG_199:g.1900080_1900086del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.3881_3887del	ENSP00000350765.3:p.Tyr1294SerfsTer7
ENST00000682238.1:c.1655_1661del	ENSP00000508124.1:p.Tyr552SerfsTer7
ENST00000683450.1:n.2500_2506del
ENST00000683957.1:n.2527_2533del
ENST00000684130.1:c.1655_1661del	ENSP00000508037.1:p.Tyr552SerfsTer7
ENST00000343523.7:c.890_896del	ENSP00000340057.4:p.Tyr297SerfsTer7
ENST00000357033.9:c.9035_9041del MANE Select	ENSP00000354923.3:p.Tyr3012SerfsTer7
ENST00000619831.5:c.5003_5009del	ENSP00000479270.2:p.Tyr1668SerfsTer7
ENST00000620040.5:c.1655_1661del	ENSP00000478150.2:p.Tyr552SerfsTer7
ENST00000680961.1:c.1655_1661del	ENSP00000506386.1:p.Tyr552SerfsTer7
ENST00000681646.1:n.2696_2702del
ENST00000343523.6:c.848_854del	ENSP00000340057.3:p.Tyr283SerfsTer7
ENST00000357033.8:c.9035_9041del	ENSP00000354923.3:p.Tyr3012SerfsTer7
ENST00000358062.6:c.2123_2129del	ENSP00000350765.2:p.Tyr708SerfsTer7
ENST00000359836.5:c.1655_1661del	ENSP00000352894.1:p.Tyr552SerfsTer7
ENST00000378677.6:c.9023_9029del	ENSP00000367948.2:p.Tyr3008SerfsTer7
ENST00000378707.7:c.1655_1661del	ENSP00000367979.3:p.Tyr552SerfsTer7
ENST00000474231.5:c.1655_1661del	ENSP00000417123.1:p.Tyr552SerfsTer7
ENST00000541735.5:c.1655_1661del	ENSP00000444119.1:p.Tyr552SerfsTer7
ENST00000619831.4:c.9020_9026del	ENSP00000479270.1:p.Tyr3007SerfsTer7
ENST00000620040.4:c.9032_9038del	ENSP00000478150.1:p.Tyr3011SerfsTer7
NM_000109.3:c.9011_9017del	NP_000100.2:p.Tyr3004SerfsTer7
NM_004006.2:c.9035_9041del , LRG_199t1:c.9035_9041del	NP_003997.1:p.Tyr3012SerfsTer7
NM_004009.3:c.9023_9029del	NP_004000.1:p.Tyr3008SerfsTer7
NM_004010.3:c.8666_8672del	NP_004001.1:p.Tyr2889SerfsTer7
NM_004011.3:c.5012_5018del	NP_004002.2:p.Tyr1671SerfsTer7
NM_004012.3:c.5003_5009del	NP_004003.1:p.Tyr1668SerfsTer7
NM_004013.2:c.1655_1661del	NP_004004.1:p.Tyr552SerfsTer7
NM_004014.2:c.848_854del	NP_004005.1:p.Tyr283SerfsTer7
NM_004020.3:c.1655_1661del	NP_004011.2:p.Tyr552SerfsTer7
NM_004021.2:c.1655_1661del	NP_004012.1:p.Tyr552SerfsTer7
NM_004022.2:c.1655_1661del	NP_004013.1:p.Tyr552SerfsTer7
NM_004023.2:c.1655_1661del	NP_004014.1:p.Tyr552SerfsTer7
XM_006724468.2:c.9035_9041del	XP_006724531.1:p.Tyr3012SerfsTer7
XM_006724469.2:c.9011_9017del	XP_006724532.1:p.Tyr3004SerfsTer7
XM_006724470.2:c.9035_9041del	XP_006724533.1:p.Tyr3012SerfsTer7
XM_006724471.2:c.9035_9041del	XP_006724534.1:p.Tyr3012SerfsTer7
XM_006724472.2:c.8906_8912del	XP_006724535.1:p.Tyr2969SerfsTer7
XM_006724473.2:c.8897_8903del	XP_006724536.1:p.Tyr2966SerfsTer7
XM_006724474.2:c.9035_9041del	XP_006724537.1:p.Tyr3012SerfsTer7
XM_006724475.2:c.9035_9041del	XP_006724538.1:p.Tyr3012SerfsTer7
XM_011545467.1:c.8912_8918del	XP_011543769.1:p.Tyr2971SerfsTer7
XM_011545468.1:c.9035_9041del	XP_011543770.1:p.Tyr3012SerfsTer7
XM_006724469.3:c.9011_9017del	XP_006724532.1:p.Tyr3004SerfsTer7
XM_006724470.3:c.9035_9041del	XP_006724533.1:p.Tyr3012SerfsTer7
XM_006724474.3:c.9035_9041del	XP_006724537.1:p.Tyr3012SerfsTer7
XM_011545468.2:c.9035_9041del	XP_011543770.1:p.Tyr3012SerfsTer7
XM_017029328.1:c.9035_9041del	XP_016884817.1:p.Tyr3012SerfsTer7
XM_017029331.1:c.3209_3215del	XP_016884820.1:p.Tyr1070SerfsTer7
NM_000109.4:c.9011_9017del	NP_000100.3:p.Tyr3004SerfsTer7
NM_004006.3:c.9035_9041del MANE Select	NP_003997.2:p.Tyr3012SerfsTer7
NM_004011.4:c.5012_5018del	NP_004002.3:p.Tyr1671SerfsTer7
NM_004012.4:c.5003_5009del	NP_004003.2:p.Tyr1668SerfsTer7
NM_004021.3:c.1655_1661del	NP_004012.2:p.Tyr552SerfsTer7
NM_004023.3:c.1655_1661del	NP_004014.2:p.Tyr552SerfsTer7
NM_004013.3:c.1655_1661del	NP_004004.2:p.Tyr552SerfsTer7
NM_004014.3:c.848_854del	NP_004005.2:p.Tyr283SerfsTer7
NM_004020.4:c.1655_1661del	NP_004011.3:p.Tyr552SerfsTer7
NM_004022.3:c.1655_1661del	NP_004013.2:p.Tyr552SerfsTer7