Canonical Allele Identifier: CA2422338640

Gene: DMD

Linked Data

• dbSNP Id: rs2041073004

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31180753_31180758del , CM000685.2:g.31180753_31180758del	GRCh38
NC_000023.10:g.31198870_31198875del , CM000685.1:g.31198870_31198875del	GRCh37
NC_000023.9:g.31108791_31108796del	NCBI36
NG_012232.1:g.2163854_2163859del , LRG_199:g.2163854_2163859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4821-275_4821-270del	ENSP00000350765.3:n.4821-275_4821-270del
ENST00000475732.3:n.2047_2052del
ENST00000680162.2:c.771-275_771-270del	ENSP00000506634.2:n.771-275_771-270del
ENST00000680768.2:c.771-275_771-270del	ENSP00000506359.2:n.771-275_771-270del
ENST00000681989.1:n.773-275_773-270del
ENST00000682238.1:c.2595-275_2595-270del	ENSP00000508124.1:n.2595-275_2595-270del
ENST00000682322.1:c.771-275_771-270del	ENSP00000507690.1:n.771-275_771-270del
ENST00000682600.1:c.771-275_771-270del	ENSP00000507640.1:n.771-275_771-270del
ENST00000682769.1:n.606-275_606-270del
ENST00000683509.1:n.1492-275_1492-270del
ENST00000683675.1:n.1074-275_1074-270del
ENST00000683709.1:n.1493-275_1493-270del
ENST00000683957.1:n.3467-275_3467-270del
ENST00000684130.1:c.2595-275_2595-270del	ENSP00000508037.1:n.2595-275_2595-270del
ENST00000343523.7:c.1830-275_1830-270del	ENSP00000340057.4:n.1830-275_1830-270del
ENST00000357033.9:c.9975-275_9975-270del MANE Select	ENSP00000354923.3:n.9975-275_9975-270del
ENST00000475732.2:n.341-275_341-270del
ENST00000619831.5:c.5943-275_5943-270del	ENSP00000479270.2:n.5943-275_5943-270del
ENST00000620040.5:c.2595-275_2595-270del	ENSP00000478150.2:n.2595-275_2595-270del
ENST00000679641.1:c.604-275_604-270del	ENSP00000506135.1:n.604-275_604-270del
ENST00000680162.1:c.648-275_648-270del	ENSP00000506634.1:n.648-275_648-270del
ENST00000680355.1:c.771-275_771-270del	ENSP00000506257.1:n.771-275_771-270del
ENST00000680557.1:c.603+23205_603+23210del	ENSP00000505164.1:n.603+23205_603+23210del
ENST00000680768.1:c.714-275_714-270del	ENSP00000506359.1:n.714-275_714-270del
ENST00000680961.1:c.2428-275_2428-270del	ENSP00000506386.1:n.2428-275_2428-270del
ENST00000681153.1:c.771-275_771-270del	ENSP00000505124.1:n.771-275_771-270del
ENST00000681654.1:n.905-275_905-270del
ENST00000343523.6:c.1788-275_1788-270del	ENSP00000340057.3:n.1788-275_1788-270del
ENST00000357033.8:c.9975-275_9975-270del	ENSP00000354923.3:n.9975-275_9975-270del
ENST00000358062.6:c.3063-275_3063-270del	ENSP00000350765.2:n.3063-275_3063-270del
ENST00000359836.5:c.2595-275_2595-270del	ENSP00000352894.1:n.2595-275_2595-270del
ENST00000361471.8:c.771-275_771-270del	ENSP00000354464.4:n.771-275_771-270del
ENST00000378677.6:c.9963-275_9963-270del	ENSP00000367948.2:n.9963-275_9963-270del
ENST00000378680.6:c.771-275_771-270del	ENSP00000367951.2:n.771-275_771-270del
ENST00000378702.8:c.771-275_771-270del	ENSP00000367974.4:n.771-275_771-270del
ENST00000378705.3:c.345-275_345-270del	ENSP00000367977.3:n.345-275_345-270del
ENST00000378707.7:c.2595-275_2595-270del	ENSP00000367979.3:n.2595-275_2595-270del
ENST00000378723.7:c.771-275_771-270del	ENSP00000367997.3:n.771-275_771-270del
ENST00000474231.5:c.2595-275_2595-270del	ENSP00000417123.1:n.2595-275_2595-270del
ENST00000475732.1:n.191-275_191-270del
ENST00000541735.5:c.2595-275_2595-270del	ENSP00000444119.1:n.2595-275_2595-270del
ENST00000619831.4:c.9960-275_9960-270del	ENSP00000479270.1:n.9960-275_9960-270del
ENST00000620040.4:c.9972-275_9972-270del	ENSP00000478150.1:n.9972-275_9972-270del
NM_000109.3:c.9951-275_9951-270del	NP_000100.2:n.9951-275_9951-270del
NM_004006.2:c.9975-275_9975-270del , LRG_199t1:c.9975-275_9975-270del	NP_003997.1:n.9975-275_9975-270del
NM_004009.3:c.9963-275_9963-270del	NP_004000.1:n.9963-275_9963-270del
NM_004010.3:c.9606-275_9606-270del	NP_004001.1:n.9606-275_9606-270del
NM_004011.3:c.5952-275_5952-270del	NP_004002.2:n.5952-275_5952-270del
NM_004012.3:c.5943-275_5943-270del	NP_004003.1:n.5943-275_5943-270del
NM_004013.2:c.2595-275_2595-270del	NP_004004.1:n.2595-275_2595-270del
NM_004014.2:c.1788-275_1788-270del	NP_004005.1:n.1788-275_1788-270del
NM_004015.2:c.771-275_771-270del	NP_004006.1:n.771-275_771-270del
NM_004016.2:c.771-275_771-270del	NP_004007.1:n.771-275_771-270del
NM_004017.2:c.771-275_771-270del	NP_004008.1:n.771-275_771-270del
NM_004018.2:c.771-275_771-270del	NP_004009.1:n.771-275_771-270del
NM_004019.2:c.771-275_771-270del	NP_004010.1:n.771-275_771-270del
NM_004020.3:c.2595-275_2595-270del	NP_004011.2:n.2595-275_2595-270del
NM_004021.2:c.2595-275_2595-270del	NP_004012.1:n.2595-275_2595-270del
NM_004022.2:c.2595-275_2595-270del	NP_004013.1:n.2595-275_2595-270del
NM_004023.2:c.2595-275_2595-270del	NP_004014.1:n.2595-275_2595-270del
XM_006724468.2:c.9975-275_9975-270del	XP_006724531.1:n.9975-275_9975-270del
XM_006724469.2:c.9951-275_9951-270del	XP_006724532.1:n.9951-275_9951-270del
XM_006724470.2:c.9975-275_9975-270del	XP_006724533.1:n.9975-275_9975-270del
XM_006724471.2:c.9975-275_9975-270del	XP_006724534.1:n.9975-275_9975-270del
XM_006724472.2:c.9846-275_9846-270del	XP_006724535.1:n.9846-275_9846-270del
XM_006724473.2:c.9837-275_9837-270del	XP_006724536.1:n.9837-275_9837-270del
XM_006724474.2:c.9975-275_9975-270del	XP_006724537.1:n.9975-275_9975-270del
XM_006724475.2:c.9975-275_9975-270del	XP_006724538.1:n.9975-275_9975-270del
XM_011545467.1:c.9852-275_9852-270del	XP_011543769.1:n.9852-275_9852-270del
XM_006724469.3:c.9951-275_9951-270del	XP_006724532.1:n.9951-275_9951-270del
XM_006724470.3:c.9975-275_9975-270del	XP_006724533.1:n.9975-275_9975-270del
XM_006724474.3:c.9975-275_9975-270del	XP_006724537.1:n.9975-275_9975-270del
XM_017029328.1:c.9975-275_9975-270del	XP_016884817.1:n.9975-275_9975-270del
XM_017029331.1:c.4149-275_4149-270del	XP_016884820.1:n.4149-275_4149-270del
NM_000109.4:c.9951-275_9951-270del	NP_000100.3:n.9951-275_9951-270del
NM_004006.3:c.9975-275_9975-270del MANE Select	NP_003997.2:n.9975-275_9975-270del
NM_004011.4:c.5952-275_5952-270del	NP_004002.3:n.5952-275_5952-270del
NM_004012.4:c.5943-275_5943-270del	NP_004003.2:n.5943-275_5943-270del
NM_004015.3:c.771-275_771-270del	NP_004006.1:n.771-275_771-270del
NM_004016.3:c.771-275_771-270del	NP_004007.1:n.771-275_771-270del
NM_004017.3:c.771-275_771-270del	NP_004008.1:n.771-275_771-270del
NM_004018.3:c.771-275_771-270del	NP_004009.1:n.771-275_771-270del
NM_004019.3:c.771-275_771-270del	NP_004010.1:n.771-275_771-270del
NM_004021.3:c.2595-275_2595-270del	NP_004012.2:n.2595-275_2595-270del
NM_004023.3:c.2595-275_2595-270del	NP_004014.2:n.2595-275_2595-270del
NM_004013.3:c.2595-275_2595-270del	NP_004004.2:n.2595-275_2595-270del
NM_004014.3:c.1788-275_1788-270del	NP_004005.2:n.1788-275_1788-270del
NM_004020.4:c.2595-275_2595-270del	NP_004011.3:n.2595-275_2595-270del
NM_004022.3:c.2595-275_2595-270del	NP_004013.2:n.2595-275_2595-270del