Canonical Allele Identifier: CA2693396048

Gene: DMD

Linked Data

• gnomAD v4: X-32454638-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454639_32454640del , CM000685.2:g.32454639_32454640del	GRCh38
NC_000023.10:g.32472756_32472757del , CM000685.1:g.32472756_32472757del	GRCh37
NC_000023.9:g.32382677_32382678del	NCBI36
NG_012232.1:g.889970_889971del , LRG_199:g.889970_889971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3810+22_3810+23del
ENST00000357033.9:c.3603+22_3603+23del MANE Select	ENSP00000354923.3:n.3603+22_3603+23del
ENST00000357033.8:c.3603+22_3603+23del	ENSP00000354923.3:n.3603+22_3603+23del
ENST00000378677.6:c.3591+22_3591+23del	ENSP00000367948.2:n.3591+22_3591+23del
ENST00000420596.5:c.94-89441_94-89440del	ENSP00000399897.1:n.94-89441_94-89440del
ENST00000448370.5:c.94-89930_94-89929del	ENSP00000388559.1:n.94-89930_94-89929del
ENST00000488902.5:n.336-237577_336-237576del
ENST00000619831.4:c.3591+22_3591+23del	ENSP00000479270.1:n.3591+22_3591+23del
ENST00000620040.4:c.3603+22_3603+23del	ENSP00000478150.1:n.3603+22_3603+23del
NM_000109.3:c.3579+22_3579+23del	NP_000100.2:n.3579+22_3579+23del
NM_004006.2:c.3603+22_3603+23del , LRG_199t1:c.3603+22_3603+23del	NP_003997.1:n.3603+22_3603+23del
NM_004009.3:c.3591+22_3591+23del	NP_004000.1:n.3591+22_3591+23del
NM_004010.3:c.3234+22_3234+23del	NP_004001.1:n.3234+22_3234+23del
XM_006724468.2:c.3603+22_3603+23del	XP_006724531.1:n.3603+22_3603+23del
XM_006724469.2:c.3579+22_3579+23del	XP_006724532.1:n.3579+22_3579+23del
XM_006724470.2:c.3603+22_3603+23del	XP_006724533.1:n.3603+22_3603+23del
XM_006724471.2:c.3603+22_3603+23del	XP_006724534.1:n.3603+22_3603+23del
XM_006724472.2:c.3474+22_3474+23del	XP_006724535.1:n.3474+22_3474+23del
XM_006724473.2:c.3603+22_3603+23del	XP_006724536.1:n.3603+22_3603+23del
XM_006724474.2:c.3603+22_3603+23del	XP_006724537.1:n.3603+22_3603+23del
XM_006724475.2:c.3603+22_3603+23del	XP_006724538.1:n.3603+22_3603+23del
XM_011545467.1:c.3603+22_3603+23del	XP_011543769.1:n.3603+22_3603+23del
XM_011545468.1:c.3603+22_3603+23del	XP_011543770.1:n.3603+22_3603+23del
XM_011545469.1:c.3603+22_3603+23del	XP_011543771.1:n.3603+22_3603+23del
XM_006724469.3:c.3579+22_3579+23del	XP_006724532.1:n.3579+22_3579+23del
XM_006724470.3:c.3603+22_3603+23del	XP_006724533.1:n.3603+22_3603+23del
XM_006724474.3:c.3603+22_3603+23del	XP_006724537.1:n.3603+22_3603+23del
XM_011545468.2:c.3603+22_3603+23del	XP_011543770.1:n.3603+22_3603+23del
XM_017029328.1:c.3603+22_3603+23del	XP_016884817.1:n.3603+22_3603+23del
XM_017029329.1:c.3603+22_3603+23del	XP_016884818.1:n.3603+22_3603+23del
XM_017029330.2:c.3603+22_3603+23del	XP_016884819.1:n.3603+22_3603+23del
NM_000109.4:c.3579+22_3579+23del	NP_000100.3:n.3579+22_3579+23del
NM_004006.3:c.3603+22_3603+23del MANE Select	NP_003997.2:n.3603+22_3603+23del