Canonical Allele Identifier: CA641364240

Gene: DMD

Linked Data

• dbSNP Id: rs1229337541
• gnomAD v2: X-32472776-TACC-T
• gnomAD v3: X-32454659-TACC-T
• gnomAD v4: X-32454659-TACC-T
• MyVariant Identifiers: chrX:g.32472777_32472779del (hg19) ; chrX:g.32454660_32454662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454660_32454662del , CM000685.2:g.32454660_32454662del	GRCh38
NC_000023.10:g.32472777_32472779del , CM000685.1:g.32472777_32472779del	GRCh37
NC_000023.9:g.32382698_32382700del	NCBI36
NG_012232.1:g.889948_889950del , LRG_199:g.889948_889950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3810_3810+2del
ENST00000357033.9:c.3603_3603+2del
ENST00000357033.8:c.3603_3603+2del
ENST00000378677.6:c.3591_3591+2del
ENST00000420596.5:c.94-89463_94-89461del	ENSP00000399897.1:n.94-89463_94-89461del
ENST00000448370.5:c.94-89952_94-89950del	ENSP00000388559.1:n.94-89952_94-89950del
ENST00000488902.5:n.336-237599_336-237597del
ENST00000619831.4:c.3591_3591+2del
ENST00000620040.4:c.3603_3603+2del
NM_000109.3:c.3579_3579+2del
NM_004006.2:c.3603_3603+2del , LRG_199t1:c.3603_3603+2del
NM_004009.3:c.3591_3591+2del
NM_004010.3:c.3234_3234+2del
XM_006724468.2:c.3603_3603+2del
XM_006724469.2:c.3579_3579+2del
XM_006724470.2:c.3603_3603+2del
XM_006724471.2:c.3603_3603+2del
XM_006724472.2:c.3474_3474+2del
XM_006724473.2:c.3603_3603+2del
XM_006724474.2:c.3603_3603+2del
XM_006724475.2:c.3603_3603+2del
XM_011545467.1:c.3603_3603+2del
XM_011545468.1:c.3603_3603+2del
XM_011545469.1:c.3603_3603+2del
XM_006724469.3:c.3579_3579+2del
XM_006724470.3:c.3603_3603+2del
XM_006724474.3:c.3603_3603+2del
XM_011545468.2:c.3603_3603+2del
XM_017029328.1:c.3603_3603+2del
XM_017029329.1:c.3603_3603+2del
XM_017029330.2:c.3603_3603+2del
NM_000109.4:c.3579_3579+2del
NM_004006.3:c.3603_3603+2del