Canonical Allele Identifier: CA2580100588
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 2113569
ClinVar RCV Id: RCV003029613

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31773212_31774154delinsTGGTGA , CM000685.2:g.31773212_31774154delinsTGGTGA GRCh38
NC_000023.10:g.31791329_31792271delinsTGGTGA , CM000685.1:g.31791329_31792271delinsTGGTGA GRCh37
NC_000023.9:g.31701250_31702192delinsTGGTGA NCBI36
NG_012232.1:g.1570456_1571398delinsTCACCA , LRG_199:g.1570456_1571398delinsTCACCA

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.2194_2388+748delinsTCACCA
ENST00000682238.1:c.-33_162+748delinsTCACCA
ENST00000683117.1:n.1009_1203+748delinsTCACCA
ENST00000683450.1:n.931_1125+748delinsTCACCA
ENST00000683851.1:n.1009_1203+748delinsTCACCA
ENST00000683957.1:n.840_1034+748delinsTCACCA
ENST00000684130.1:c.-33_162+748delinsTCACCA
ENST00000357033.9:c.7348_7542+748delinsTCACCA
ENST00000619831.5:c.3316_3510+748delinsTCACCA
ENST00000620040.5:c.-33_162+748delinsTCACCA
ENST00000680961.1:c.-33_162+748delinsTCACCA
ENST00000681646.1:n.1009_1203+748delinsTCACCA
ENST00000681839.1:c.337_531+748delinsTCACCA
ENST00000357033.8:c.7348_7542+748delinsTCACCA
ENST00000358062.6:c.436_630+748delinsTCACCA
ENST00000359836.5:c.-33_162+748delinsTCACCA
ENST00000378677.6:c.7336_7530+748delinsTCACCA
ENST00000378707.7:c.-33_162+748delinsTCACCA
ENST00000471779.1:c.105_299+748delinsTCACCA
ENST00000474231.5:c.-33_162+748delinsTCACCA
ENST00000541735.5:c.-33_162+748delinsTCACCA
ENST00000619831.4:c.7333_7527+748delinsTCACCA
ENST00000620040.4:c.7345_7539+748delinsTCACCA
NM_000109.3:c.7324_7518+748delinsTCACCA
NM_004006.2:c.7348_7542+748delinsTCACCA , LRG_199t1:c.7348_7542+748delinsTCACCA
NM_004009.3:c.7336_7530+748delinsTCACCA
NM_004010.3:c.6979_7173+748delinsTCACCA
NM_004011.3:c.3325_3519+748delinsTCACCA
NM_004012.3:c.3316_3510+748delinsTCACCA
NM_004013.2:c.-33_162+748delinsTCACCA
NM_004020.3:c.-33_162+748delinsTCACCA
NM_004021.2:c.-33_162+748delinsTCACCA
NM_004022.2:c.-33_162+748delinsTCACCA
NM_004023.2:c.-33_162+748delinsTCACCA
XM_006724468.2:c.7348_7542+748delinsTCACCA
XM_006724469.2:c.7324_7518+748delinsTCACCA
XM_006724470.2:c.7348_7542+748delinsTCACCA
XM_006724471.2:c.7348_7542+748delinsTCACCA
XM_006724472.2:c.7219_7413+748delinsTCACCA
XM_006724473.2:c.7210_7404+748delinsTCACCA
XM_006724474.2:c.7348_7542+748delinsTCACCA
XM_006724475.2:c.7348_7542+748delinsTCACCA
XM_011545467.1:c.7225_7419+748delinsTCACCA
XM_011545468.1:c.7348_7542+748delinsTCACCA
XM_006724469.3:c.7324_7518+748delinsTCACCA
XM_006724470.3:c.7348_7542+748delinsTCACCA
XM_006724474.3:c.7348_7542+748delinsTCACCA
XM_011545468.2:c.7348_7542+748delinsTCACCA
XM_017029328.1:c.7348_7542+748delinsTCACCA
XM_017029331.1:c.1522_1716+748delinsTCACCA
NM_000109.4:c.7324_7518+748delinsTCACCA
NM_004006.3:c.7348_7542+748delinsTCACCA
NM_004011.4:c.3325_3519+748delinsTCACCA
NM_004012.4:c.3316_3510+748delinsTCACCA
NM_004021.3:c.-33_162+748delinsTCACCA
NM_004023.3:c.-33_162+748delinsTCACCA
NM_004013.3:c.-33_162+748delinsTCACCA
NM_004020.4:c.-33_162+748delinsTCACCA
NM_004022.3:c.-33_162+748delinsTCACCA