Canonical Allele Identifier: CA2422548583

Gene: DMD

Linked Data

• dbSNP Id: rs2090498390

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31773897_31773900del , CM000685.2:g.31773897_31773900del	GRCh38
NC_000023.10:g.31792014_31792017del , CM000685.1:g.31792014_31792017del	GRCh37
NC_000023.9:g.31701935_31701938del	NCBI36
NG_012232.1:g.1570712_1570715del , LRG_199:g.1570712_1570715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2388+62_2388+65del	ENSP00000350765.3:n.2388+62_2388+65del
ENST00000682238.1:c.162+62_162+65del	ENSP00000508124.1:n.162+62_162+65del
ENST00000683117.1:n.1203+62_1203+65del
ENST00000683450.1:n.1125+62_1125+65del
ENST00000683851.1:n.1203+62_1203+65del
ENST00000683957.1:n.1034+62_1034+65del
ENST00000684130.1:c.162+62_162+65del	ENSP00000508037.1:n.162+62_162+65del
ENST00000357033.9:c.7542+62_7542+65del MANE Select	ENSP00000354923.3:n.7542+62_7542+65del
ENST00000619831.5:c.3510+62_3510+65del	ENSP00000479270.2:n.3510+62_3510+65del
ENST00000620040.5:c.162+62_162+65del	ENSP00000478150.2:n.162+62_162+65del
ENST00000680961.1:c.162+62_162+65del	ENSP00000506386.1:n.162+62_162+65del
ENST00000681646.1:n.1203+62_1203+65del
ENST00000681839.1:c.531+62_531+65del	ENSP00000505228.1:n.531+62_531+65del
ENST00000357033.8:c.7542+62_7542+65del	ENSP00000354923.3:n.7542+62_7542+65del
ENST00000358062.6:c.630+62_630+65del	ENSP00000350765.2:n.630+62_630+65del
ENST00000359836.5:c.162+62_162+65del	ENSP00000352894.1:n.162+62_162+65del
ENST00000378677.6:c.7530+62_7530+65del	ENSP00000367948.2:n.7530+62_7530+65del
ENST00000378707.7:c.162+62_162+65del	ENSP00000367979.3:n.162+62_162+65del
ENST00000471779.1:c.299+62_299+65del	ENSP00000417075.1:n.299+62_299+65del
ENST00000474231.5:c.162+62_162+65del	ENSP00000417123.1:n.162+62_162+65del
ENST00000541735.5:c.162+62_162+65del	ENSP00000444119.1:n.162+62_162+65del
ENST00000619831.4:c.7527+62_7527+65del	ENSP00000479270.1:n.7527+62_7527+65del
ENST00000620040.4:c.7539+62_7539+65del	ENSP00000478150.1:n.7539+62_7539+65del
NM_000109.3:c.7518+62_7518+65del	NP_000100.2:n.7518+62_7518+65del
NM_004006.2:c.7542+62_7542+65del , LRG_199t1:c.7542+62_7542+65del	NP_003997.1:n.7542+62_7542+65del
NM_004009.3:c.7530+62_7530+65del	NP_004000.1:n.7530+62_7530+65del
NM_004010.3:c.7173+62_7173+65del	NP_004001.1:n.7173+62_7173+65del
NM_004011.3:c.3519+62_3519+65del	NP_004002.2:n.3519+62_3519+65del
NM_004012.3:c.3510+62_3510+65del	NP_004003.1:n.3510+62_3510+65del
NM_004013.2:c.162+62_162+65del	NP_004004.1:n.162+62_162+65del
NM_004020.3:c.162+62_162+65del	NP_004011.2:n.162+62_162+65del
NM_004021.2:c.162+62_162+65del	NP_004012.1:n.162+62_162+65del
NM_004022.2:c.162+62_162+65del	NP_004013.1:n.162+62_162+65del
NM_004023.2:c.162+62_162+65del	NP_004014.1:n.162+62_162+65del
XM_006724468.2:c.7542+62_7542+65del	XP_006724531.1:n.7542+62_7542+65del
XM_006724469.2:c.7518+62_7518+65del	XP_006724532.1:n.7518+62_7518+65del
XM_006724470.2:c.7542+62_7542+65del	XP_006724533.1:n.7542+62_7542+65del
XM_006724471.2:c.7542+62_7542+65del	XP_006724534.1:n.7542+62_7542+65del
XM_006724472.2:c.7413+62_7413+65del	XP_006724535.1:n.7413+62_7413+65del
XM_006724473.2:c.7404+62_7404+65del	XP_006724536.1:n.7404+62_7404+65del
XM_006724474.2:c.7542+62_7542+65del	XP_006724537.1:n.7542+62_7542+65del
XM_006724475.2:c.7542+62_7542+65del	XP_006724538.1:n.7542+62_7542+65del
XM_011545467.1:c.7419+62_7419+65del	XP_011543769.1:n.7419+62_7419+65del
XM_011545468.1:c.7542+62_7542+65del	XP_011543770.1:n.7542+62_7542+65del
XM_006724469.3:c.7518+62_7518+65del	XP_006724532.1:n.7518+62_7518+65del
XM_006724470.3:c.7542+62_7542+65del	XP_006724533.1:n.7542+62_7542+65del
XM_006724474.3:c.7542+62_7542+65del	XP_006724537.1:n.7542+62_7542+65del
XM_011545468.2:c.7542+62_7542+65del	XP_011543770.1:n.7542+62_7542+65del
XM_017029328.1:c.7542+62_7542+65del	XP_016884817.1:n.7542+62_7542+65del
XM_017029331.1:c.1716+62_1716+65del	XP_016884820.1:n.1716+62_1716+65del
NM_000109.4:c.7518+62_7518+65del	NP_000100.3:n.7518+62_7518+65del
NM_004006.3:c.7542+62_7542+65del MANE Select	NP_003997.2:n.7542+62_7542+65del
NM_004011.4:c.3519+62_3519+65del	NP_004002.3:n.3519+62_3519+65del
NM_004012.4:c.3510+62_3510+65del	NP_004003.2:n.3510+62_3510+65del
NM_004021.3:c.162+62_162+65del	NP_004012.2:n.162+62_162+65del
NM_004023.3:c.162+62_162+65del	NP_004014.2:n.162+62_162+65del
NM_004013.3:c.162+62_162+65del	NP_004004.2:n.162+62_162+65del
NM_004020.4:c.162+62_162+65del	NP_004011.3:n.162+62_162+65del
NM_004022.3:c.162+62_162+65del	NP_004013.2:n.162+62_162+65del