Canonical Allele Identifier: CA2739268173

Gene: DMD

Linked Data

• ClinVar Variation Id: 2848036
• ClinVar RCV Id: RCV003623181

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32310099_32310100delinsAA , CM000685.2:g.32310099_32310100delinsAA	GRCh38
NC_000023.10:g.32328216_32328217delinsAA , CM000685.1:g.32328216_32328217delinsAA	GRCh37
NC_000023.9:g.32238137_32238138delinsAA	NCBI36
NG_012232.1:g.1034510_1034511delinsTT , LRG_199:g.1034510_1034511delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.945_946delinsTT	ENSP00000350765.3:p.Lys315AsnfsTer2
ENST00000357033.9:c.6099_6100delinsTT MANE Select	ENSP00000354923.3:p.Lys2033AsnfsTer2
ENST00000619831.5:c.2067_2068delinsTT	ENSP00000479270.2:p.Lys689AsnfsTer2
ENST00000357033.8:c.6099_6100delinsTT	ENSP00000354923.3:p.Lys2033AsnfsTer2
ENST00000378677.6:c.6087_6088delinsTT	ENSP00000367948.2:p.Lys2029AsnfsTer2
ENST00000488902.5:n.336-93037_336-93036delinsTT
ENST00000619831.4:c.6087_6088delinsTT	ENSP00000479270.1:p.Lys2029AsnfsTer2
ENST00000620040.4:c.6099_6100delinsTT	ENSP00000478150.1:p.Lys2033AsnfsTer2
NM_000109.3:c.6075_6076delinsTT	NP_000100.2:p.Lys2025AsnfsTer2
NM_004006.2:c.6099_6100delinsTT , LRG_199t1:c.6099_6100delinsTT	NP_003997.1:p.Lys2033AsnfsTer2
NM_004009.3:c.6087_6088delinsTT	NP_004000.1:p.Lys2029AsnfsTer2
NM_004010.3:c.5730_5731delinsTT	NP_004001.1:p.Lys1910AsnfsTer2
NM_004011.3:c.2076_2077delinsTT	NP_004002.2:p.Lys692AsnfsTer2
NM_004012.3:c.2067_2068delinsTT	NP_004003.1:p.Lys689AsnfsTer2
XM_006724468.2:c.6099_6100delinsTT	XP_006724531.1:p.Lys2033AsnfsTer2
XM_006724469.2:c.6075_6076delinsTT	XP_006724532.1:p.Lys2025AsnfsTer2
XM_006724470.2:c.6099_6100delinsTT	XP_006724533.1:p.Lys2033AsnfsTer2
XM_006724471.2:c.6099_6100delinsTT	XP_006724534.1:p.Lys2033AsnfsTer2
XM_006724472.2:c.5970_5971delinsTT	XP_006724535.1:p.Lys1990AsnfsTer2
XM_006724473.2:c.5961_5962delinsTT	XP_006724536.1:p.Lys1987AsnfsTer2
XM_006724474.2:c.6099_6100delinsTT	XP_006724537.1:p.Lys2033AsnfsTer2
XM_006724475.2:c.6099_6100delinsTT	XP_006724538.1:p.Lys2033AsnfsTer2
XM_011545467.1:c.5976_5977delinsTT	XP_011543769.1:p.Lys1992AsnfsTer2
XM_011545468.1:c.6099_6100delinsTT	XP_011543770.1:p.Lys2033AsnfsTer2
XM_006724469.3:c.6075_6076delinsTT	XP_006724532.1:p.Lys2025AsnfsTer2
XM_006724470.3:c.6099_6100delinsTT	XP_006724533.1:p.Lys2033AsnfsTer2
XM_006724474.3:c.6099_6100delinsTT	XP_006724537.1:p.Lys2033AsnfsTer2
XM_011545468.2:c.6099_6100delinsTT	XP_011543770.1:p.Lys2033AsnfsTer2
XM_017029328.1:c.6099_6100delinsTT	XP_016884817.1:p.Lys2033AsnfsTer2
XM_017029329.1:c.6099_6100delinsTT	XP_016884818.1:p.Lys2033AsnfsTer2
XM_017029330.2:c.6099_6100delinsTT	XP_016884819.1:p.Lys2033AsnfsTer2
XM_017029331.1:c.273_274delinsTT	XP_016884820.1:p.Lys91AsnfsTer2
NM_000109.4:c.6075_6076delinsTT	NP_000100.3:p.Lys2025AsnfsTer2
NM_004006.3:c.6099_6100delinsTT MANE Select	NP_003997.2:p.Lys2033AsnfsTer2
NM_004011.4:c.2076_2077delinsTT	NP_004002.3:p.Lys692AsnfsTer2
NM_004012.4:c.2067_2068delinsTT	NP_004003.2:p.Lys689AsnfsTer2