Canonical Allele Identifier: CA10378613

Gene: DMD

Linked Data

• ClinVar Variation Id: 2823422
• ClinVar RCV Id: RCV003622788
• dbSNP Id: rs779622187
• ExAC: X:32361239 AAAC / A
• gnomAD v2: X-32361239-AAAC-A
• gnomAD v3: X-32343122-AAAC-A
• gnomAD v4: X-32343122-AAAC-A
• MyVariant Identifiers: chrX:g.32361240_32361242del (hg19) ; chrX:g.32343123_32343125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343127_32343129del , CM000685.2:g.32343127_32343129del	GRCh38
NC_000023.10:g.32361244_32361246del , CM000685.1:g.32361244_32361246del	GRCh37
NC_000023.9:g.32271165_32271167del	NCBI36
NG_012232.1:g.1001485_1001487del , LRG_199:g.1001485_1001487del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.585+9_585+11del	ENSP00000350765.3:n.585+9_585+11del
ENST00000357033.9:c.5739+9_5739+11del MANE Select	ENSP00000354923.3:n.5739+9_5739+11del
ENST00000619831.5:c.1707+9_1707+11del	ENSP00000479270.2:n.1707+9_1707+11del
ENST00000357033.8:c.5739+9_5739+11del	ENSP00000354923.3:n.5739+9_5739+11del
ENST00000378677.6:c.5727+9_5727+11del	ENSP00000367948.2:n.5727+9_5727+11del
ENST00000488902.5:n.336-126062_336-126060del
ENST00000493412.1:c.396+9_396+11del	ENSP00000417725.1:n.396+9_396+11del
ENST00000619831.4:c.5727+9_5727+11del	ENSP00000479270.1:n.5727+9_5727+11del
ENST00000620040.4:c.5739+9_5739+11del	ENSP00000478150.1:n.5739+9_5739+11del
NM_000109.3:c.5715+9_5715+11del	NP_000100.2:n.5715+9_5715+11del
NM_004006.2:c.5739+9_5739+11del , LRG_199t1:c.5739+9_5739+11del	NP_003997.1:n.5739+9_5739+11del
NM_004009.3:c.5727+9_5727+11del	NP_004000.1:n.5727+9_5727+11del
NM_004010.3:c.5370+9_5370+11del	NP_004001.1:n.5370+9_5370+11del
NM_004011.3:c.1716+9_1716+11del	NP_004002.2:n.1716+9_1716+11del
NM_004012.3:c.1707+9_1707+11del	NP_004003.1:n.1707+9_1707+11del
XM_006724468.2:c.5739+9_5739+11del	XP_006724531.1:n.5739+9_5739+11del
XM_006724469.2:c.5715+9_5715+11del	XP_006724532.1:n.5715+9_5715+11del
XM_006724470.2:c.5739+9_5739+11del	XP_006724533.1:n.5739+9_5739+11del
XM_006724471.2:c.5739+9_5739+11del	XP_006724534.1:n.5739+9_5739+11del
XM_006724472.2:c.5610+9_5610+11del	XP_006724535.1:n.5610+9_5610+11del
XM_006724473.2:c.5601+9_5601+11del	XP_006724536.1:n.5601+9_5601+11del
XM_006724474.2:c.5739+9_5739+11del	XP_006724537.1:n.5739+9_5739+11del
XM_006724475.2:c.5739+9_5739+11del	XP_006724538.1:n.5739+9_5739+11del
XM_011545467.1:c.5616+9_5616+11del	XP_011543769.1:n.5616+9_5616+11del
XM_011545468.1:c.5739+9_5739+11del	XP_011543770.1:n.5739+9_5739+11del
XM_011545469.1:c.5739+9_5739+11del	XP_011543771.1:n.5739+9_5739+11del
XM_006724469.3:c.5715+9_5715+11del	XP_006724532.1:n.5715+9_5715+11del
XM_006724470.3:c.5739+9_5739+11del	XP_006724533.1:n.5739+9_5739+11del
XM_006724474.3:c.5739+9_5739+11del	XP_006724537.1:n.5739+9_5739+11del
XM_011545468.2:c.5739+9_5739+11del	XP_011543770.1:n.5739+9_5739+11del
XM_017029328.1:c.5739+9_5739+11del	XP_016884817.1:n.5739+9_5739+11del
XM_017029329.1:c.5739+9_5739+11del	XP_016884818.1:n.5739+9_5739+11del
XM_017029330.2:c.5739+9_5739+11del	XP_016884819.1:n.5739+9_5739+11del
NM_000109.4:c.5715+9_5715+11del	NP_000100.3:n.5715+9_5715+11del
NM_004006.3:c.5739+9_5739+11del MANE Select	NP_003997.2:n.5739+9_5739+11del
NM_004011.4:c.1716+9_1716+11del	NP_004002.3:n.1716+9_1716+11del
NM_004012.4:c.1707+9_1707+11del	NP_004003.2:n.1707+9_1707+11del