Canonical Allele Identifier: CA2573158575

Gene: DMD

Linked Data

• ClinVar Variation Id: 1530457
• ClinVar RCV Id: RCV002099402
• dbSNP Id: rs2148347843

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454653_32454654insG , CM000685.2:g.32454653_32454654insG	GRCh38
NC_000023.10:g.32472770_32472771insG , CM000685.1:g.32472770_32472771insG	GRCh37
NC_000023.9:g.32382691_32382692insG	NCBI36
NG_012232.1:g.889956_889957insC , LRG_199:g.889956_889957insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3810+8_3810+9insC
ENST00000357033.9:c.3603+8_3603+9insC MANE Select	ENSP00000354923.3:n.3603+8_3603+9insC
ENST00000357033.8:c.3603+8_3603+9insC	ENSP00000354923.3:n.3603+8_3603+9insC
ENST00000378677.6:c.3591+8_3591+9insC	ENSP00000367948.2:n.3591+8_3591+9insC
ENST00000420596.5:c.94-89455_94-89454insC	ENSP00000399897.1:n.94-89455_94-89454insC
ENST00000448370.5:c.94-89944_94-89943insC	ENSP00000388559.1:n.94-89944_94-89943insC
ENST00000488902.5:n.336-237591_336-237590insC
ENST00000619831.4:c.3591+8_3591+9insC	ENSP00000479270.1:n.3591+8_3591+9insC
ENST00000620040.4:c.3603+8_3603+9insC	ENSP00000478150.1:n.3603+8_3603+9insC
NM_000109.3:c.3579+8_3579+9insC	NP_000100.2:n.3579+8_3579+9insC
NM_004006.2:c.3603+8_3603+9insC , LRG_199t1:c.3603+8_3603+9insC	NP_003997.1:n.3603+8_3603+9insC
NM_004009.3:c.3591+8_3591+9insC	NP_004000.1:n.3591+8_3591+9insC
NM_004010.3:c.3234+8_3234+9insC	NP_004001.1:n.3234+8_3234+9insC
XM_006724468.2:c.3603+8_3603+9insC	XP_006724531.1:n.3603+8_3603+9insC
XM_006724469.2:c.3579+8_3579+9insC	XP_006724532.1:n.3579+8_3579+9insC
XM_006724470.2:c.3603+8_3603+9insC	XP_006724533.1:n.3603+8_3603+9insC
XM_006724471.2:c.3603+8_3603+9insC	XP_006724534.1:n.3603+8_3603+9insC
XM_006724472.2:c.3474+8_3474+9insC	XP_006724535.1:n.3474+8_3474+9insC
XM_006724473.2:c.3603+8_3603+9insC	XP_006724536.1:n.3603+8_3603+9insC
XM_006724474.2:c.3603+8_3603+9insC	XP_006724537.1:n.3603+8_3603+9insC
XM_006724475.2:c.3603+8_3603+9insC	XP_006724538.1:n.3603+8_3603+9insC
XM_011545467.1:c.3603+8_3603+9insC	XP_011543769.1:n.3603+8_3603+9insC
XM_011545468.1:c.3603+8_3603+9insC	XP_011543770.1:n.3603+8_3603+9insC
XM_011545469.1:c.3603+8_3603+9insC	XP_011543771.1:n.3603+8_3603+9insC
XM_006724469.3:c.3579+8_3579+9insC	XP_006724532.1:n.3579+8_3579+9insC
XM_006724470.3:c.3603+8_3603+9insC	XP_006724533.1:n.3603+8_3603+9insC
XM_006724474.3:c.3603+8_3603+9insC	XP_006724537.1:n.3603+8_3603+9insC
XM_011545468.2:c.3603+8_3603+9insC	XP_011543770.1:n.3603+8_3603+9insC
XM_017029328.1:c.3603+8_3603+9insC	XP_016884817.1:n.3603+8_3603+9insC
XM_017029329.1:c.3603+8_3603+9insC	XP_016884818.1:n.3603+8_3603+9insC
XM_017029330.2:c.3603+8_3603+9insC	XP_016884819.1:n.3603+8_3603+9insC
NM_000109.4:c.3579+8_3579+9insC	NP_000100.3:n.3579+8_3579+9insC
NM_004006.3:c.3603+8_3603+9insC MANE Select	NP_003997.2:n.3603+8_3603+9insC