Canonical Allele Identifier: CA891843295

Gene: DSP

Linked Data

• ClinVar Variation Id: 565816
• ClinVar RCV Id: RCV000685468 ; RCV002386161
• dbSNP Id: rs1561687796
• gnomAD v4: 6-7568448-G-GA
• MyVariant Identifiers: chr6:g.7568685dup (hg19) ; chr6:g.7568452dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7568452dup , CM000668.2:g.7568452dup	GRCh38
NC_000006.11:g.7568685dup , CM000668.1:g.7568685dup	GRCh37
NC_000006.10:g.7513684dup	NCBI36
NG_008803.1:g.31816dup , LRG_423:g.31816dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.1282dup	ENSP00000518230.1:p.Ile428AsnfsTer3
ENST00000682228.1:n.1467dup
ENST00000379802.8:c.1282dup MANE Select	ENSP00000369129.3:p.Ile428AsnfsTer3
ENST00000379802.7:c.1282dup	ENSP00000369129.3:p.Ile428AsnfsTer3
ENST00000418664.2:c.1282dup	ENSP00000396591.2:p.Ile428AsnfsTer3
NM_001008844.1:c.1282dup	NP_001008844.1:p.Ile428AsnfsTer3
NM_004415.2:c.1282dup , LRG_423t1:c.1282dup	NP_004406.2:p.Ile428AsnfsTer3
XM_011514323.1:c.1282dup	XP_011512625.1:p.Ile428AsnfsTer3
NM_001008844.2:c.1282dup	NP_001008844.1:p.Ile428AsnfsTer3
NM_001319034.1:c.1282dup	NP_001305963.1:p.Ile428AsnfsTer3
NM_004415.3:c.1282dup	NP_004406.2:p.Ile428AsnfsTer3
NM_004415.4:c.1282dup MANE Select	NP_004406.2:p.Ile428AsnfsTer3
NM_001008844.3:c.1282dup	NP_001008844.1:p.Ile428AsnfsTer3
NM_001319034.2:c.1282dup	NP_001305963.1:p.Ile428AsnfsTer3