Canonical Allele Identifier: CA267051

Gene: DMD

Linked Data

• ClinVar Variation Id: 94653
• ClinVar RCV Id: RCV000080643 ; RCV001381881
• dbSNP Id: rs398123979
• MyVariant Identifiers: chrX:g.32382726_32382729del (hg19) ; chrX:g.32382726_32382729delTTTC (hg19) ; chrX:g.32364609_32364612del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32364612_32364615del , CM000685.2:g.32364612_32364615del	GRCh38
NC_000023.10:g.32382729_32382732del , CM000685.1:g.32382729_32382732del	GRCh37
NC_000023.9:g.32292650_32292653del	NCBI36
NG_012232.1:g.979998_980001del , LRG_199:g.979998_980001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.5124_5127del MANE Select	ENSP00000354923.3:p.Lys1708AsnfsTer12
ENST00000619831.5:c.1092_1095del	ENSP00000479270.2:p.Lys364AsnfsTer12
ENST00000357033.8:c.5124_5127del	ENSP00000354923.3:p.Lys1708AsnfsTer12
ENST00000378677.6:c.5112_5115del	ENSP00000367948.2:p.Lys1704AsnfsTer12
ENST00000488902.5:n.336-147549_336-147546del
ENST00000619831.4:c.5112_5115del	ENSP00000479270.1:p.Lys1704AsnfsTer12
ENST00000620040.4:c.5124_5127del	ENSP00000478150.1:p.Lys1708AsnfsTer12
NM_000109.3:c.5100_5103del	NP_000100.2:p.Lys1700AsnfsTer12
NM_004006.2:c.5124_5127del , LRG_199t1:c.5124_5127del	NP_003997.1:p.Lys1708AsnfsTer12
NM_004009.3:c.5112_5115del	NP_004000.1:p.Lys1704AsnfsTer12
NM_004010.3:c.4755_4758del	NP_004001.1:p.Lys1585AsnfsTer12
NM_004011.3:c.1101_1104del	NP_004002.2:p.Lys367AsnfsTer12
NM_004012.3:c.1092_1095del	NP_004003.1:p.Lys364AsnfsTer12
XM_006724468.2:c.5124_5127del	XP_006724531.1:p.Lys1708AsnfsTer12
XM_006724469.2:c.5100_5103del	XP_006724532.1:p.Lys1700AsnfsTer12
XM_006724470.2:c.5124_5127del	XP_006724533.1:p.Lys1708AsnfsTer12
XM_006724471.2:c.5124_5127del	XP_006724534.1:p.Lys1708AsnfsTer12
XM_006724472.2:c.4995_4998del	XP_006724535.1:p.Lys1665AsnfsTer12
XM_006724473.2:c.5124_5127del	XP_006724536.1:p.Lys1708AsnfsTer12
XM_006724474.2:c.5124_5127del	XP_006724537.1:p.Lys1708AsnfsTer12
XM_006724475.2:c.5124_5127del	XP_006724538.1:p.Lys1708AsnfsTer12
XM_011545467.1:c.5124_5127del	XP_011543769.1:p.Lys1708AsnfsTer12
XM_011545468.1:c.5124_5127del	XP_011543770.1:p.Lys1708AsnfsTer12
XM_011545469.1:c.5124_5127del	XP_011543771.1:p.Lys1708AsnfsTer12
XM_006724469.3:c.5100_5103del	XP_006724532.1:p.Lys1700AsnfsTer12
XM_006724470.3:c.5124_5127del	XP_006724533.1:p.Lys1708AsnfsTer12
XM_006724474.3:c.5124_5127del	XP_006724537.1:p.Lys1708AsnfsTer12
XM_011545468.2:c.5124_5127del	XP_011543770.1:p.Lys1708AsnfsTer12
XM_017029328.1:c.5124_5127del	XP_016884817.1:p.Lys1708AsnfsTer12
XM_017029329.1:c.5124_5127del	XP_016884818.1:p.Lys1708AsnfsTer12
XM_017029330.2:c.5124_5127del	XP_016884819.1:p.Lys1708AsnfsTer12
NM_000109.4:c.5100_5103del	NP_000100.3:p.Lys1700AsnfsTer12
NM_004006.3:c.5124_5127del MANE Select	NP_003997.2:p.Lys1708AsnfsTer12
NM_004011.4:c.1101_1104del	NP_004002.3:p.Lys367AsnfsTer12
NM_004012.4:c.1092_1095del	NP_004003.2:p.Lys364AsnfsTer12