Canonical Allele Identifier: CA2580100677

Gene: DMD

Linked Data

• ClinVar Variation Id: 1704541
• ClinVar RCV Id: RCV002282868

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365018_32365042del , CM000685.2:g.32365018_32365042del	GRCh38
NC_000023.10:g.32383135_32383159del , CM000685.1:g.32383135_32383159del	GRCh37
NC_000023.9:g.32293056_32293080del	NCBI36
NG_012232.1:g.979573_979597del , LRG_199:g.979573_979597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.5008_5025+7del
ENST00000619831.5:c.976_993+7del
ENST00000357033.8:c.5008_5025+7del
ENST00000378677.6:c.4996_5013+7del
ENST00000420596.5:c.256_273+7del
ENST00000448370.5:c.94-327_94-303del	ENSP00000388559.1:n.94-327_94-303del
ENST00000488902.5:n.336-147974_336-147950del
ENST00000619831.4:c.4996_5013+7del
ENST00000620040.4:c.5008_5025+7del
NM_000109.3:c.4984_5001+7del
NM_004006.2:c.5008_5025+7del , LRG_199t1:c.5008_5025+7del
NM_004009.3:c.4996_5013+7del
NM_004010.3:c.4639_4656+7del
NM_004011.3:c.985_1002+7del
NM_004012.3:c.976_993+7del
XM_006724468.2:c.5008_5025+7del
XM_006724469.2:c.4984_5001+7del
XM_006724470.2:c.5008_5025+7del
XM_006724471.2:c.5008_5025+7del
XM_006724472.2:c.4879_4896+7del
XM_006724473.2:c.5008_5025+7del
XM_006724474.2:c.5008_5025+7del
XM_006724475.2:c.5008_5025+7del
XM_011545467.1:c.5008_5025+7del
XM_011545468.1:c.5008_5025+7del
XM_011545469.1:c.5008_5025+7del
XM_006724469.3:c.4984_5001+7del
XM_006724470.3:c.5008_5025+7del
XM_006724474.3:c.5008_5025+7del
XM_011545468.2:c.5008_5025+7del
XM_017029328.1:c.5008_5025+7del
XM_017029329.1:c.5008_5025+7del
XM_017029330.2:c.5008_5025+7del
NM_000109.4:c.4984_5001+7del
NM_004006.3:c.5008_5025+7del
NM_004011.4:c.985_1002+7del
NM_004012.4:c.976_993+7del