Canonical Allele Identifier: CA874727570

Gene: DMD

Linked Data

• dbSNP Id: rs1174129664
• gnomAD v3: X-32454528-TATTA-T
• gnomAD v4: X-32454528-TATTA-T
• MyVariant Identifiers: chrX:g.32472646_32472649del (hg19) ; chrX:g.32454529_32454532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454534_32454537del , CM000685.2:g.32454534_32454537del	GRCh38
NC_000023.10:g.32472651_32472654del , CM000685.1:g.32472651_32472654del	GRCh37
NC_000023.9:g.32382572_32382575del	NCBI36
NG_012232.1:g.890078_890081del , LRG_199:g.890078_890081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3810+130_3810+133del
ENST00000357033.9:c.3603+130_3603+133del MANE Select	ENSP00000354923.3:n.3603+130_3603+133del
ENST00000357033.8:c.3603+130_3603+133del	ENSP00000354923.3:n.3603+130_3603+133del
ENST00000378677.6:c.3591+130_3591+133del	ENSP00000367948.2:n.3591+130_3591+133del
ENST00000420596.5:c.94-89333_94-89330del	ENSP00000399897.1:n.94-89333_94-89330del
ENST00000448370.5:c.94-89822_94-89819del	ENSP00000388559.1:n.94-89822_94-89819del
ENST00000488902.5:n.336-237469_336-237466del
ENST00000619831.4:c.3591+130_3591+133del	ENSP00000479270.1:n.3591+130_3591+133del
ENST00000620040.4:c.3603+130_3603+133del	ENSP00000478150.1:n.3603+130_3603+133del
NM_000109.3:c.3579+130_3579+133del	NP_000100.2:n.3579+130_3579+133del
NM_004006.2:c.3603+130_3603+133del , LRG_199t1:c.3603+130_3603+133del	NP_003997.1:n.3603+130_3603+133del
NM_004009.3:c.3591+130_3591+133del	NP_004000.1:n.3591+130_3591+133del
NM_004010.3:c.3234+130_3234+133del	NP_004001.1:n.3234+130_3234+133del
XM_006724468.2:c.3603+130_3603+133del	XP_006724531.1:n.3603+130_3603+133del
XM_006724469.2:c.3579+130_3579+133del	XP_006724532.1:n.3579+130_3579+133del
XM_006724470.2:c.3603+130_3603+133del	XP_006724533.1:n.3603+130_3603+133del
XM_006724471.2:c.3603+130_3603+133del	XP_006724534.1:n.3603+130_3603+133del
XM_006724472.2:c.3474+130_3474+133del	XP_006724535.1:n.3474+130_3474+133del
XM_006724473.2:c.3603+130_3603+133del	XP_006724536.1:n.3603+130_3603+133del
XM_006724474.2:c.3603+130_3603+133del	XP_006724537.1:n.3603+130_3603+133del
XM_006724475.2:c.3603+130_3603+133del	XP_006724538.1:n.3603+130_3603+133del
XM_011545467.1:c.3603+130_3603+133del	XP_011543769.1:n.3603+130_3603+133del
XM_011545468.1:c.3603+130_3603+133del	XP_011543770.1:n.3603+130_3603+133del
XM_011545469.1:c.3603+130_3603+133del	XP_011543771.1:n.3603+130_3603+133del
XM_006724469.3:c.3579+130_3579+133del	XP_006724532.1:n.3579+130_3579+133del
XM_006724470.3:c.3603+130_3603+133del	XP_006724533.1:n.3603+130_3603+133del
XM_006724474.3:c.3603+130_3603+133del	XP_006724537.1:n.3603+130_3603+133del
XM_011545468.2:c.3603+130_3603+133del	XP_011543770.1:n.3603+130_3603+133del
XM_017029328.1:c.3603+130_3603+133del	XP_016884817.1:n.3603+130_3603+133del
XM_017029329.1:c.3603+130_3603+133del	XP_016884818.1:n.3603+130_3603+133del
XM_017029330.2:c.3603+130_3603+133del	XP_016884819.1:n.3603+130_3603+133del
NM_000109.4:c.3579+130_3579+133del	NP_000100.3:n.3579+130_3579+133del
NM_004006.3:c.3603+130_3603+133del MANE Select	NP_003997.2:n.3603+130_3603+133del