Canonical Allele Identifier: CA915951784

Gene: DMPK DM1-AS

Linked Data

• ClinVar Variation Id: 810819
• ClinVar RCV Id: RCV000999683
• gnomAD v3: 19-45770204-C-CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
• gnomAD v4: 19-45770204-C-CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45770216_45770266dup , CM000681.2:g.45770216_45770266dup	GRCh38
NC_000019.9:g.46273474_46273524dup , CM000681.1:g.46273474_46273524dup	GRCh37
NC_000019.8:g.50965314_50965364dup	NCBI36
NG_009784.1:g.17303_17353dup
NG_012745.1:g.3985_4035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343373.10:c.*226_*276dup (DMPK)	ENSP00000345997.4:n.*226_*276dup
ENST00000600370.2:n.1808_1858dup (DMPK)
ENST00000682259.1:n.2635_2685dup (DMPK)
ENST00000682335.1:n.2697_2747dup (DMPK)
ENST00000682436.1:n.990_1040dup (DMPK)
ENST00000682529.1:n.956_1006dup (DMPK)
ENST00000682994.1:n.3551_3601dup (DMPK)
ENST00000683086.1:c.*378_*428dup (DMPK)	ENSP00000508381.1:n.*378_*428dup
ENST00000683830.1:n.3321_3371dup (DMPK)
ENST00000684007.1:n.2430_2480dup (DMPK)
ENST00000684672.1:n.2427_2477dup (DMPK)
ENST00000291270.9:c.*233_*283dup (DMPK) MANE Select	ENSP00000291270.4:n.*233_*283dup
ENST00000343373.9:c.*233_*283dup (DMPK)	ENSP00000345997.3:n.*233_*283dup
ENST00000600757.6:n.2697_2747dup (DMPK)
ENST00000674226.1:n.2822_2872dup (DMPK)
ENST00000291270.8:c.*233_*283dup (DMPK)	ENSP00000291270.3:n.*233_*283dup
ENST00000343373.8:c.*233_*283dup (DMPK)	ENSP00000345997.3:n.*233_*283dup
ENST00000447742.6:c.*233_*283dup (DMPK)	ENSP00000413417.1:n.*233_*283dup
ENST00000458663.6:c.*226_*276dup (DMPK)	ENSP00000401753.1:n.*226_*276dup
ENST00000588522.5:c.*1945_*1995dup (DMPK)	ENSP00000468013.1:n.*1945_*1995dup
ENST00000596686.5:n.1964_2014dup (DMPK)
ENST00000598272.1:n.1111_1161dup (DMPK)
ENST00000600757.5:c.*226_*276dup (DMPK)	ENSP00000472965.1:n.*226_*276dup
ENST00000618091.4:c.*226_*232-1dup (DMPK)
NM_001081560.2:c.*233_*283dup (DMPK)	NP_001075029.1:n.*233_*283dup
NM_001081562.2:c.*226_*276dup (DMPK)	NP_001075031.1:n.*226_*276dup
NM_001081563.2:c.*233_*283dup (DMPK)	NP_001075032.1:n.*233_*283dup
NM_001288764.1:c.*233_*283dup (DMPK)	NP_001275693.1:n.*233_*283dup
NM_001288765.1:c.*226_*276dup (DMPK)	NP_001275694.1:n.*226_*276dup
NM_001288766.1:c.*378_*428dup (DMPK)	NP_001275695.1:n.*378_*428dup
NM_004409.4:c.*233_*283dup (DMPK)	NP_004400.4:n.*233_*283dup
NR_147193.1:n.337-1274_337-1224dup (DM1-AS)
NM_001081560.3:c.*233_*283dup (DMPK)	NP_001075029.1:n.*233_*283dup
NM_001081562.3:c.*226_*276dup (DMPK)	NP_001075031.1:n.*226_*276dup
NM_001288764.2:c.*233_*283dup (DMPK)	NP_001275693.1:n.*233_*283dup
NM_001288766.2:c.*378_*428dup (DMPK)	NP_001275695.1:n.*378_*428dup
NM_004409.5:c.*233_*283dup (DMPK) MANE Select	NP_004400.4:n.*233_*283dup
NM_001288765.2:c.*226_*276dup (DMPK)	NP_001275694.1:n.*226_*276dup