Canonical Allele Identifier: CA874713674

Gene: DMD

Linked Data

• ClinVar Variation Id: 2720634
• ClinVar RCV Id: RCV003513284
• dbSNP Id: rs1177803905
• gnomAD v4: X-32386483-AC-A
• MyVariant Identifiers: chrX:g.32404601del (hg19) ; chrX:g.32386484del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32386484del , CM000685.2:g.32386484del	GRCh38
NC_000023.10:g.32404601del , CM000685.1:g.32404601del	GRCh37
NC_000023.9:g.32314522del	NCBI36
NG_012232.1:g.958126del , LRG_199:g.958126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4519-19del MANE Select	ENSP00000354923.3:n.4519-19del
ENST00000619831.5:c.487-19del	ENSP00000479270.2:n.487-19del
ENST00000357033.8:c.4519-19del	ENSP00000354923.3:n.4519-19del
ENST00000378677.6:c.4507-19del	ENSP00000367948.2:n.4507-19del
ENST00000420596.5:c.94-21285del	ENSP00000399897.1:n.94-21285del
ENST00000448370.5:c.94-21774del	ENSP00000388559.1:n.94-21774del
ENST00000488902.5:n.336-169421del
ENST00000619831.4:c.4507-19del	ENSP00000479270.1:n.4507-19del
ENST00000620040.4:c.4519-19del	ENSP00000478150.1:n.4519-19del
NM_000109.3:c.4495-19del	NP_000100.2:n.4495-19del
NM_004006.2:c.4519-19del , LRG_199t1:c.4519-19del	NP_003997.1:n.4519-19del
NM_004009.3:c.4507-19del	NP_004000.1:n.4507-19del
NM_004010.3:c.4150-19del	NP_004001.1:n.4150-19del
NM_004011.3:c.496-19del	NP_004002.2:n.496-19del
NM_004012.3:c.487-19del	NP_004003.1:n.487-19del
XM_006724468.2:c.4519-19del	XP_006724531.1:n.4519-19del
XM_006724469.2:c.4495-19del	XP_006724532.1:n.4495-19del
XM_006724470.2:c.4519-19del	XP_006724533.1:n.4519-19del
XM_006724471.2:c.4519-19del	XP_006724534.1:n.4519-19del
XM_006724472.2:c.4390-19del	XP_006724535.1:n.4390-19del
XM_006724473.2:c.4519-19del	XP_006724536.1:n.4519-19del
XM_006724474.2:c.4519-19del	XP_006724537.1:n.4519-19del
XM_006724475.2:c.4519-19del	XP_006724538.1:n.4519-19del
XM_011545467.1:c.4519-19del	XP_011543769.1:n.4519-19del
XM_011545468.1:c.4519-19del	XP_011543770.1:n.4519-19del
XM_011545469.1:c.4519-19del	XP_011543771.1:n.4519-19del
XM_006724469.3:c.4495-19del	XP_006724532.1:n.4495-19del
XM_006724470.3:c.4519-19del	XP_006724533.1:n.4519-19del
XM_006724474.3:c.4519-19del	XP_006724537.1:n.4519-19del
XM_011545468.2:c.4519-19del	XP_011543770.1:n.4519-19del
XM_017029328.1:c.4519-19del	XP_016884817.1:n.4519-19del
XM_017029329.1:c.4519-19del	XP_016884818.1:n.4519-19del
XM_017029330.2:c.4519-19del	XP_016884819.1:n.4519-19del
NM_000109.4:c.4495-19del	NP_000100.3:n.4495-19del
NM_004006.3:c.4519-19del MANE Select	NP_003997.2:n.4519-19del
NM_004011.4:c.496-19del	NP_004002.3:n.496-19del
NM_004012.4:c.487-19del	NP_004003.2:n.487-19del