Canonical Allele Identifier: CA2820325822

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464696_32464697insCTTTCCCGTCTAC , CM000685.2:g.32464696_32464697insCTTTCCCGTCTAC	GRCh38
NC_000023.10:g.32482813_32482814insCTTTCCCGTCTAC , CM000685.1:g.32482813_32482814insCTTTCCCGTCTAC	GRCh37
NC_000023.9:g.32392734_32392735insCTTTCCCGTCTAC	NCBI36
NG_012232.1:g.879913_879914insGTAGACGGGAAAG , LRG_199:g.879913_879914insGTAGACGGGAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3372_3373insGTAGACGGGAAAG
ENST00000357033.9:c.3165_3166insGTAGACGGGAAAG MANE Select	ENSP00000354923.3:p.His1056ValfsTer15
ENST00000357033.8:c.3165_3166insGTAGACGGGAAAG	ENSP00000354923.3:p.His1056ValfsTer15
ENST00000378677.6:c.3153_3154insGTAGACGGGAAAG	ENSP00000367948.2:p.His1052ValfsTer15
ENST00000420596.5:c.94-99498_94-99497insGTAGACGGGAAAG	ENSP00000399897.1:n.94-99498_94-99497insGTAGACGGGAAAG
ENST00000448370.5:c.94-99987_94-99986insGTAGACGGGAAAG	ENSP00000388559.1:n.94-99987_94-99986insGTAGACGGGAAAG
ENST00000488902.5:n.336-247634_336-247633insGTAGACGGGAAAG
ENST00000619831.4:c.3153_3154insGTAGACGGGAAAG	ENSP00000479270.1:p.His1052ValfsTer15
ENST00000620040.4:c.3165_3166insGTAGACGGGAAAG	ENSP00000478150.1:p.His1056ValfsTer15
NM_000109.3:c.3141_3142insGTAGACGGGAAAG	NP_000100.2:p.His1048ValfsTer15
NM_004006.2:c.3165_3166insGTAGACGGGAAAG , LRG_199t1:c.3165_3166insGTAGACGGGAAAG	NP_003997.1:p.His1056ValfsTer15
NM_004009.3:c.3153_3154insGTAGACGGGAAAG	NP_004000.1:p.His1052ValfsTer15
NM_004010.3:c.2796_2797insGTAGACGGGAAAG	NP_004001.1:p.His933ValfsTer15
XM_006724468.2:c.3165_3166insGTAGACGGGAAAG	XP_006724531.1:p.His1056ValfsTer15
XM_006724469.2:c.3141_3142insGTAGACGGGAAAG	XP_006724532.1:p.His1048ValfsTer15
XM_006724470.2:c.3165_3166insGTAGACGGGAAAG	XP_006724533.1:p.His1056ValfsTer15
XM_006724471.2:c.3165_3166insGTAGACGGGAAAG	XP_006724534.1:p.His1056ValfsTer15
XM_006724472.2:c.3036_3037insGTAGACGGGAAAG	XP_006724535.1:p.His1013ValfsTer15
XM_006724473.2:c.3165_3166insGTAGACGGGAAAG	XP_006724536.1:p.His1056ValfsTer15
XM_006724474.2:c.3165_3166insGTAGACGGGAAAG	XP_006724537.1:p.His1056ValfsTer15
XM_006724475.2:c.3165_3166insGTAGACGGGAAAG	XP_006724538.1:p.His1056ValfsTer15
XM_011545467.1:c.3165_3166insGTAGACGGGAAAG	XP_011543769.1:p.His1056ValfsTer15
XM_011545468.1:c.3165_3166insGTAGACGGGAAAG	XP_011543770.1:p.His1056ValfsTer15
XM_011545469.1:c.3165_3166insGTAGACGGGAAAG	XP_011543771.1:p.His1056ValfsTer15
XM_006724469.3:c.3141_3142insGTAGACGGGAAAG	XP_006724532.1:p.His1048ValfsTer15
XM_006724470.3:c.3165_3166insGTAGACGGGAAAG	XP_006724533.1:p.His1056ValfsTer15
XM_006724474.3:c.3165_3166insGTAGACGGGAAAG	XP_006724537.1:p.His1056ValfsTer15
XM_011545468.2:c.3165_3166insGTAGACGGGAAAG	XP_011543770.1:p.His1056ValfsTer15
XM_017029328.1:c.3165_3166insGTAGACGGGAAAG	XP_016884817.1:p.His1056ValfsTer15
XM_017029329.1:c.3165_3166insGTAGACGGGAAAG	XP_016884818.1:p.His1056ValfsTer15
XM_017029330.2:c.3165_3166insGTAGACGGGAAAG	XP_016884819.1:p.His1056ValfsTer15
NM_000109.4:c.3141_3142insGTAGACGGGAAAG	NP_000100.3:p.His1048ValfsTer15
NM_004006.3:c.3165_3166insGTAGACGGGAAAG MANE Select	NP_003997.2:p.His1056ValfsTer15