Canonical Allele Identifier: CA915950836

Gene: DMD

Linked Data

• ClinVar Variation Id: 817035
• ClinVar RCV Id: RCV001008100
• dbSNP Id: rs1603633867

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454787_32454788del , CM000685.2:g.32454787_32454788del	GRCh38
NC_000023.10:g.32472904_32472905del , CM000685.1:g.32472904_32472905del	GRCh37
NC_000023.9:g.32382825_32382826del	NCBI36
NG_012232.1:g.889823_889824del , LRG_199:g.889823_889824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682899.1:n.3685_3686del
ENST00000357033.9:c.3478_3479del MANE Select	ENSP00000354923.3:p.Val1160LysfsTer17
ENST00000357033.8:c.3478_3479del	ENSP00000354923.3:p.Val1160LysfsTer17
ENST00000378677.6:c.3466_3467del	ENSP00000367948.2:p.Val1156LysfsTer17
ENST00000420596.5:c.94-89588_94-89587del	ENSP00000399897.1:n.94-89588_94-89587del
ENST00000448370.5:c.94-90077_94-90076del	ENSP00000388559.1:n.94-90077_94-90076del
ENST00000488902.5:n.336-237724_336-237723del
ENST00000619831.4:c.3466_3467del	ENSP00000479270.1:p.Val1156LysfsTer17
ENST00000620040.4:c.3478_3479del	ENSP00000478150.1:p.Val1160LysfsTer17
NM_000109.3:c.3454_3455del	NP_000100.2:p.Val1152LysfsTer17
NM_004006.2:c.3478_3479del , LRG_199t1:c.3478_3479del	NP_003997.1:p.Val1160LysfsTer17
NM_004009.3:c.3466_3467del	NP_004000.1:p.Val1156LysfsTer17
NM_004010.3:c.3109_3110del	NP_004001.1:p.Val1037LysfsTer17
XM_006724468.2:c.3478_3479del	XP_006724531.1:p.Val1160LysfsTer17
XM_006724469.2:c.3454_3455del	XP_006724532.1:p.Val1152LysfsTer17
XM_006724470.2:c.3478_3479del	XP_006724533.1:p.Val1160LysfsTer17
XM_006724471.2:c.3478_3479del	XP_006724534.1:p.Val1160LysfsTer17
XM_006724472.2:c.3349_3350del	XP_006724535.1:p.Val1117LysfsTer17
XM_006724473.2:c.3478_3479del	XP_006724536.1:p.Val1160LysfsTer17
XM_006724474.2:c.3478_3479del	XP_006724537.1:p.Val1160LysfsTer17
XM_006724475.2:c.3478_3479del	XP_006724538.1:p.Val1160LysfsTer17
XM_011545467.1:c.3478_3479del	XP_011543769.1:p.Val1160LysfsTer17
XM_011545468.1:c.3478_3479del	XP_011543770.1:p.Val1160LysfsTer17
XM_011545469.1:c.3478_3479del	XP_011543771.1:p.Val1160LysfsTer17
XM_006724469.3:c.3454_3455del	XP_006724532.1:p.Val1152LysfsTer17
XM_006724470.3:c.3478_3479del	XP_006724533.1:p.Val1160LysfsTer17
XM_006724474.3:c.3478_3479del	XP_006724537.1:p.Val1160LysfsTer17
XM_011545468.2:c.3478_3479del	XP_011543770.1:p.Val1160LysfsTer17
XM_017029328.1:c.3478_3479del	XP_016884817.1:p.Val1160LysfsTer17
XM_017029329.1:c.3478_3479del	XP_016884818.1:p.Val1160LysfsTer17
XM_017029330.2:c.3478_3479del	XP_016884819.1:p.Val1160LysfsTer17
NM_000109.4:c.3454_3455del	NP_000100.3:p.Val1152LysfsTer17
NM_004006.3:c.3478_3479del MANE Select	NP_003997.2:p.Val1160LysfsTer17