Canonical Allele Identifier: CA412672110

Gene: DMD

Linked Data

• dbSNP Id: rs1557305615
• gnomAD v4: X-32365109-CCTT-C
• MyVariant Identifiers: chrX:g.32383227_32383229del (hg19) ; chrX:g.32365111_32365113del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365113_32365115del , CM000685.2:g.32365113_32365115del	GRCh38
NC_000023.10:g.32383230_32383232del , CM000685.1:g.32383230_32383232del	GRCh37
NC_000023.9:g.32293151_32293153del	NCBI36
NG_012232.1:g.979498_979500del , LRG_199:g.979498_979500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4933_4935del MANE Select	ENSP00000354923.3:p.Lys1645del
ENST00000619831.5:c.901_903del	ENSP00000479270.2:p.Lys301del
ENST00000357033.8:c.4933_4935del	ENSP00000354923.3:p.Lys1645del
ENST00000378677.6:c.4921_4923del	ENSP00000367948.2:p.Lys1641del
ENST00000420596.5:c.181_183del	ENSP00000399897.1:p.Lys61del
ENST00000448370.5:c.94-402_94-400del	ENSP00000388559.1:n.94-402_94-400del
ENST00000488902.5:n.336-148049_336-148047del
ENST00000619831.4:c.4921_4923del	ENSP00000479270.1:p.Lys1641del
ENST00000620040.4:c.4933_4935del	ENSP00000478150.1:p.Lys1645del
NM_000109.3:c.4909_4911del	NP_000100.2:p.Lys1637del
NM_004006.2:c.4933_4935del , LRG_199t1:c.4933_4935del	NP_003997.1:p.Lys1645del
NM_004009.3:c.4921_4923del	NP_004000.1:p.Lys1641del
NM_004010.3:c.4564_4566del	NP_004001.1:p.Lys1522del
NM_004011.3:c.910_912del	NP_004002.2:p.Lys304del
NM_004012.3:c.901_903del	NP_004003.1:p.Lys301del
XM_006724468.2:c.4933_4935del	XP_006724531.1:p.Lys1645del
XM_006724469.2:c.4909_4911del	XP_006724532.1:p.Lys1637del
XM_006724470.2:c.4933_4935del	XP_006724533.1:p.Lys1645del
XM_006724471.2:c.4933_4935del	XP_006724534.1:p.Lys1645del
XM_006724472.2:c.4804_4806del	XP_006724535.1:p.Lys1602del
XM_006724473.2:c.4933_4935del	XP_006724536.1:p.Lys1645del
XM_006724474.2:c.4933_4935del	XP_006724537.1:p.Lys1645del
XM_006724475.2:c.4933_4935del	XP_006724538.1:p.Lys1645del
XM_011545467.1:c.4933_4935del	XP_011543769.1:p.Lys1645del
XM_011545468.1:c.4933_4935del	XP_011543770.1:p.Lys1645del
XM_011545469.1:c.4933_4935del	XP_011543771.1:p.Lys1645del
XM_006724469.3:c.4909_4911del	XP_006724532.1:p.Lys1637del
XM_006724470.3:c.4933_4935del	XP_006724533.1:p.Lys1645del
XM_006724474.3:c.4933_4935del	XP_006724537.1:p.Lys1645del
XM_011545468.2:c.4933_4935del	XP_011543770.1:p.Lys1645del
XM_017029328.1:c.4933_4935del	XP_016884817.1:p.Lys1645del
XM_017029329.1:c.4933_4935del	XP_016884818.1:p.Lys1645del
XM_017029330.2:c.4933_4935del	XP_016884819.1:p.Lys1645del
NM_000109.4:c.4909_4911del	NP_000100.3:p.Lys1637del
NM_004006.3:c.4933_4935del MANE Select	NP_003997.2:p.Lys1645del
NM_004011.4:c.910_912del	NP_004002.3:p.Lys304del
NM_004012.4:c.901_903del	NP_004003.2:p.Lys301del