Canonical Allele Identifier: CA10379268

Gene: DMD

Linked Data

• ClinVar Variation Id: 421901
• ClinVar RCV Id: RCV000485893 ; RCV001431904 ; RCV004535524
• dbSNP Id: rs771258264
• ExAC: X:32472957 AAAAC / A
• gnomAD v2: X-32472957-AAAAC-A
• gnomAD v3: X-32454840-AAAAC-A
• gnomAD v4: X-32454840-AAAAC-A
• MyVariant Identifiers: chrX:g.32472958_32472961del (hg19) ; chrX:g.32454841_32454844del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454852_32454855del , CM000685.2:g.32454852_32454855del	GRCh38
NC_000023.10:g.32472969_32472972del , CM000685.1:g.32472969_32472972del	GRCh37
NC_000023.9:g.32382890_32382893del	NCBI36
NG_012232.1:g.889766_889769del , LRG_199:g.889766_889769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3640-12_3640-9del
ENST00000357033.9:c.3433-12_3433-9del MANE Select	ENSP00000354923.3:n.3433-12_3433-9del
ENST00000357033.8:c.3433-12_3433-9del	ENSP00000354923.3:n.3433-12_3433-9del
ENST00000378677.6:c.3421-12_3421-9del	ENSP00000367948.2:n.3421-12_3421-9del
ENST00000420596.5:c.94-89645_94-89642del	ENSP00000399897.1:n.94-89645_94-89642del
ENST00000448370.5:c.94-90134_94-90131del	ENSP00000388559.1:n.94-90134_94-90131del
ENST00000488902.5:n.336-237781_336-237778del
ENST00000619831.4:c.3421-12_3421-9del	ENSP00000479270.1:n.3421-12_3421-9del
ENST00000620040.4:c.3433-12_3433-9del	ENSP00000478150.1:n.3433-12_3433-9del
NM_000109.3:c.3409-12_3409-9del	NP_000100.2:n.3409-12_3409-9del
NM_004006.2:c.3433-12_3433-9del , LRG_199t1:c.3433-12_3433-9del	NP_003997.1:n.3433-12_3433-9del
NM_004009.3:c.3421-12_3421-9del	NP_004000.1:n.3421-12_3421-9del
NM_004010.3:c.3064-12_3064-9del	NP_004001.1:n.3064-12_3064-9del
XM_006724468.2:c.3433-12_3433-9del	XP_006724531.1:n.3433-12_3433-9del
XM_006724469.2:c.3409-12_3409-9del	XP_006724532.1:n.3409-12_3409-9del
XM_006724470.2:c.3433-12_3433-9del	XP_006724533.1:n.3433-12_3433-9del
XM_006724471.2:c.3433-12_3433-9del	XP_006724534.1:n.3433-12_3433-9del
XM_006724472.2:c.3304-12_3304-9del	XP_006724535.1:n.3304-12_3304-9del
XM_006724473.2:c.3433-12_3433-9del	XP_006724536.1:n.3433-12_3433-9del
XM_006724474.2:c.3433-12_3433-9del	XP_006724537.1:n.3433-12_3433-9del
XM_006724475.2:c.3433-12_3433-9del	XP_006724538.1:n.3433-12_3433-9del
XM_011545467.1:c.3433-12_3433-9del	XP_011543769.1:n.3433-12_3433-9del
XM_011545468.1:c.3433-12_3433-9del	XP_011543770.1:n.3433-12_3433-9del
XM_011545469.1:c.3433-12_3433-9del	XP_011543771.1:n.3433-12_3433-9del
XM_006724469.3:c.3409-12_3409-9del	XP_006724532.1:n.3409-12_3409-9del
XM_006724470.3:c.3433-12_3433-9del	XP_006724533.1:n.3433-12_3433-9del
XM_006724474.3:c.3433-12_3433-9del	XP_006724537.1:n.3433-12_3433-9del
XM_011545468.2:c.3433-12_3433-9del	XP_011543770.1:n.3433-12_3433-9del
XM_017029328.1:c.3433-12_3433-9del	XP_016884817.1:n.3433-12_3433-9del
XM_017029329.1:c.3433-12_3433-9del	XP_016884818.1:n.3433-12_3433-9del
XM_017029330.2:c.3433-12_3433-9del	XP_016884819.1:n.3433-12_3433-9del
NM_000109.4:c.3409-12_3409-9del	NP_000100.3:n.3409-12_3409-9del
NM_004006.3:c.3433-12_3433-9del MANE Select	NP_003997.2:n.3433-12_3433-9del