Canonical Allele Identifier: CA874727601

Gene: DMD

Linked Data

• dbSNP Id: rs1255049112
• gnomAD v3: X-32454592-CATT-C
• gnomAD v4: X-32454592-CATT-C
• MyVariant Identifiers: chrX:g.32472710_32472712del (hg19) ; chrX:g.32454593_32454595del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454593_32454595del , CM000685.2:g.32454593_32454595del	GRCh38
NC_000023.10:g.32472710_32472712del , CM000685.1:g.32472710_32472712del	GRCh37
NC_000023.9:g.32382631_32382633del	NCBI36
NG_012232.1:g.890015_890017del , LRG_199:g.890015_890017del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682899.1:n.3810+67_3810+69del
ENST00000357033.9:c.3603+67_3603+69del MANE Select	ENSP00000354923.3:n.3603+67_3603+69del
ENST00000357033.8:c.3603+67_3603+69del	ENSP00000354923.3:n.3603+67_3603+69del
ENST00000378677.6:c.3591+67_3591+69del	ENSP00000367948.2:n.3591+67_3591+69del
ENST00000420596.5:c.94-89396_94-89394del	ENSP00000399897.1:n.94-89396_94-89394del
ENST00000448370.5:c.94-89885_94-89883del	ENSP00000388559.1:n.94-89885_94-89883del
ENST00000488902.5:n.336-237532_336-237530del
ENST00000619831.4:c.3591+67_3591+69del	ENSP00000479270.1:n.3591+67_3591+69del
ENST00000620040.4:c.3603+67_3603+69del	ENSP00000478150.1:n.3603+67_3603+69del
NM_000109.3:c.3579+67_3579+69del	NP_000100.2:n.3579+67_3579+69del
NM_004006.2:c.3603+67_3603+69del , LRG_199t1:c.3603+67_3603+69del	NP_003997.1:n.3603+67_3603+69del
NM_004009.3:c.3591+67_3591+69del	NP_004000.1:n.3591+67_3591+69del
NM_004010.3:c.3234+67_3234+69del	NP_004001.1:n.3234+67_3234+69del
XM_006724468.2:c.3603+67_3603+69del	XP_006724531.1:n.3603+67_3603+69del
XM_006724469.2:c.3579+67_3579+69del	XP_006724532.1:n.3579+67_3579+69del
XM_006724470.2:c.3603+67_3603+69del	XP_006724533.1:n.3603+67_3603+69del
XM_006724471.2:c.3603+67_3603+69del	XP_006724534.1:n.3603+67_3603+69del
XM_006724472.2:c.3474+67_3474+69del	XP_006724535.1:n.3474+67_3474+69del
XM_006724473.2:c.3603+67_3603+69del	XP_006724536.1:n.3603+67_3603+69del
XM_006724474.2:c.3603+67_3603+69del	XP_006724537.1:n.3603+67_3603+69del
XM_006724475.2:c.3603+67_3603+69del	XP_006724538.1:n.3603+67_3603+69del
XM_011545467.1:c.3603+67_3603+69del	XP_011543769.1:n.3603+67_3603+69del
XM_011545468.1:c.3603+67_3603+69del	XP_011543770.1:n.3603+67_3603+69del
XM_011545469.1:c.3603+67_3603+69del	XP_011543771.1:n.3603+67_3603+69del
XM_006724469.3:c.3579+67_3579+69del	XP_006724532.1:n.3579+67_3579+69del
XM_006724470.3:c.3603+67_3603+69del	XP_006724533.1:n.3603+67_3603+69del
XM_006724474.3:c.3603+67_3603+69del	XP_006724537.1:n.3603+67_3603+69del
XM_011545468.2:c.3603+67_3603+69del	XP_011543770.1:n.3603+67_3603+69del
XM_017029328.1:c.3603+67_3603+69del	XP_016884817.1:n.3603+67_3603+69del
XM_017029329.1:c.3603+67_3603+69del	XP_016884818.1:n.3603+67_3603+69del
XM_017029330.2:c.3603+67_3603+69del	XP_016884819.1:n.3603+67_3603+69del
NM_000109.4:c.3579+67_3579+69del	NP_000100.3:n.3579+67_3579+69del
NM_004006.3:c.3603+67_3603+69del MANE Select	NP_003997.2:n.3603+67_3603+69del