Canonical Allele Identifier: CA915951770

Gene: DMPK DM1-AS

Linked Data

• ClinVar Variation Id: 810799
• ClinVar RCV Id: RCV000999663
• gnomAD v3: 19-45770204-C-CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
• gnomAD v4: 19-45770204-C-CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45770225_45770266dup , CM000681.2:g.45770225_45770266dup	GRCh38
NC_000019.9:g.46273483_46273524dup , CM000681.1:g.46273483_46273524dup	GRCh37
NC_000019.8:g.50965323_50965364dup	NCBI36
NG_009784.1:g.17312_17353dup
NG_012745.1:g.3994_4035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343373.10:c.*235_*276dup (DMPK)	ENSP00000345997.4:n.*235_*276dup
ENST00000600370.2:n.1817_1858dup (DMPK)
ENST00000682259.1:n.2644_2685dup (DMPK)
ENST00000682335.1:n.2706_2747dup (DMPK)
ENST00000682436.1:n.999_1040dup (DMPK)
ENST00000682529.1:n.965_1006dup (DMPK)
ENST00000682994.1:n.3560_3601dup (DMPK)
ENST00000683086.1:c.*387_*428dup (DMPK)	ENSP00000508381.1:n.*387_*428dup
ENST00000683830.1:n.3330_3371dup (DMPK)
ENST00000684007.1:n.2439_2480dup (DMPK)
ENST00000684672.1:n.2436_2477dup (DMPK)
ENST00000291270.9:c.*242_*283dup (DMPK) MANE Select	ENSP00000291270.4:n.*242_*283dup
ENST00000343373.9:c.*242_*283dup (DMPK)	ENSP00000345997.3:n.*242_*283dup
ENST00000600757.6:n.2706_2747dup (DMPK)
ENST00000674226.1:n.2831_2872dup (DMPK)
ENST00000291270.8:c.*242_*283dup (DMPK)	ENSP00000291270.3:n.*242_*283dup
ENST00000343373.8:c.*242_*283dup (DMPK)	ENSP00000345997.3:n.*242_*283dup
ENST00000447742.6:c.*242_*283dup (DMPK)	ENSP00000413417.1:n.*242_*283dup
ENST00000458663.6:c.*235_*276dup (DMPK)	ENSP00000401753.1:n.*235_*276dup
ENST00000588522.5:c.*1954_*1995dup (DMPK)	ENSP00000468013.1:n.*1954_*1995dup
ENST00000596686.5:n.1973_2014dup (DMPK)
ENST00000598272.1:n.1120_1161dup (DMPK)
ENST00000600757.5:c.*235_*276dup (DMPK)	ENSP00000472965.1:n.*235_*276dup
ENST00000618091.4:c.*231+4_*232-1dup (DMPK)
NM_001081560.2:c.*242_*283dup (DMPK)	NP_001075029.1:n.*242_*283dup
NM_001081562.2:c.*235_*276dup (DMPK)	NP_001075031.1:n.*235_*276dup
NM_001081563.2:c.*242_*283dup (DMPK)	NP_001075032.1:n.*242_*283dup
NM_001288764.1:c.*242_*283dup (DMPK)	NP_001275693.1:n.*242_*283dup
NM_001288765.1:c.*235_*276dup (DMPK)	NP_001275694.1:n.*235_*276dup
NM_001288766.1:c.*387_*428dup (DMPK)	NP_001275695.1:n.*387_*428dup
NM_004409.4:c.*242_*283dup (DMPK)	NP_004400.4:n.*242_*283dup
NR_147193.1:n.337-1265_337-1224dup (DM1-AS)
NM_001081560.3:c.*242_*283dup (DMPK)	NP_001075029.1:n.*242_*283dup
NM_001081562.3:c.*235_*276dup (DMPK)	NP_001075031.1:n.*235_*276dup
NM_001288764.2:c.*242_*283dup (DMPK)	NP_001275693.1:n.*242_*283dup
NM_001288766.2:c.*387_*428dup (DMPK)	NP_001275695.1:n.*387_*428dup
NM_004409.5:c.*242_*283dup (DMPK) MANE Select	NP_004400.4:n.*242_*283dup
NM_001288765.2:c.*235_*276dup (DMPK)	NP_001275694.1:n.*235_*276dup