Canonical Allele Identifier: CA2573158576

Gene: DMD

Linked Data

• ClinVar Variation Id: 1495411
• ClinVar RCV Id: RCV002015271
• dbSNP Id: rs1603633860

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454659_32454660insG , CM000685.2:g.32454659_32454660insG	GRCh38
NC_000023.10:g.32472776_32472777insG , CM000685.1:g.32472776_32472777insG	GRCh37
NC_000023.9:g.32382697_32382698insG	NCBI36
NG_012232.1:g.889950_889951insC , LRG_199:g.889950_889951insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3810+2_3810+3insC
ENST00000357033.9:c.3603+2_3603+3insC MANE Select	ENSP00000354923.3:n.3603+2_3603+3insC
ENST00000357033.8:c.3603+2_3603+3insC	ENSP00000354923.3:n.3603+2_3603+3insC
ENST00000378677.6:c.3591+2_3591+3insC	ENSP00000367948.2:n.3591+2_3591+3insC
ENST00000420596.5:c.94-89461_94-89460insC	ENSP00000399897.1:n.94-89461_94-89460insC
ENST00000448370.5:c.94-89950_94-89949insC	ENSP00000388559.1:n.94-89950_94-89949insC
ENST00000488902.5:n.336-237597_336-237596insC
ENST00000619831.4:c.3591+2_3591+3insC	ENSP00000479270.1:n.3591+2_3591+3insC
ENST00000620040.4:c.3603+2_3603+3insC	ENSP00000478150.1:n.3603+2_3603+3insC
NM_000109.3:c.3579+2_3579+3insC	NP_000100.2:n.3579+2_3579+3insC
NM_004006.2:c.3603+2_3603+3insC , LRG_199t1:c.3603+2_3603+3insC	NP_003997.1:n.3603+2_3603+3insC
NM_004009.3:c.3591+2_3591+3insC	NP_004000.1:n.3591+2_3591+3insC
NM_004010.3:c.3234+2_3234+3insC	NP_004001.1:n.3234+2_3234+3insC
XM_006724468.2:c.3603+2_3603+3insC	XP_006724531.1:n.3603+2_3603+3insC
XM_006724469.2:c.3579+2_3579+3insC	XP_006724532.1:n.3579+2_3579+3insC
XM_006724470.2:c.3603+2_3603+3insC	XP_006724533.1:n.3603+2_3603+3insC
XM_006724471.2:c.3603+2_3603+3insC	XP_006724534.1:n.3603+2_3603+3insC
XM_006724472.2:c.3474+2_3474+3insC	XP_006724535.1:n.3474+2_3474+3insC
XM_006724473.2:c.3603+2_3603+3insC	XP_006724536.1:n.3603+2_3603+3insC
XM_006724474.2:c.3603+2_3603+3insC	XP_006724537.1:n.3603+2_3603+3insC
XM_006724475.2:c.3603+2_3603+3insC	XP_006724538.1:n.3603+2_3603+3insC
XM_011545467.1:c.3603+2_3603+3insC	XP_011543769.1:n.3603+2_3603+3insC
XM_011545468.1:c.3603+2_3603+3insC	XP_011543770.1:n.3603+2_3603+3insC
XM_011545469.1:c.3603+2_3603+3insC	XP_011543771.1:n.3603+2_3603+3insC
XM_006724469.3:c.3579+2_3579+3insC	XP_006724532.1:n.3579+2_3579+3insC
XM_006724470.3:c.3603+2_3603+3insC	XP_006724533.1:n.3603+2_3603+3insC
XM_006724474.3:c.3603+2_3603+3insC	XP_006724537.1:n.3603+2_3603+3insC
XM_011545468.2:c.3603+2_3603+3insC	XP_011543770.1:n.3603+2_3603+3insC
XM_017029328.1:c.3603+2_3603+3insC	XP_016884817.1:n.3603+2_3603+3insC
XM_017029329.1:c.3603+2_3603+3insC	XP_016884818.1:n.3603+2_3603+3insC
XM_017029330.2:c.3603+2_3603+3insC	XP_016884819.1:n.3603+2_3603+3insC
NM_000109.4:c.3579+2_3579+3insC	NP_000100.3:n.3579+2_3579+3insC
NM_004006.3:c.3603+2_3603+3insC MANE Select	NP_003997.2:n.3603+2_3603+3insC