Canonical Allele Identifier: CA133972518

Gene: DSP

Linked Data

• ClinVar Variation Id: 2574083
• ClinVar RCV Id: RCV003485902
• dbSNP Id: rs777955503
• MyVariant Identifiers: chr6:g.7583332_7583333insAT (hg19) ; chr6:g.7583099_7583100insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583102_7583103dup , CM000668.2:g.7583102_7583103dup	GRCh38
NC_000006.11:g.7583335_7583336dup , CM000668.1:g.7583335_7583336dup	GRCh37
NC_000006.10:g.7528334_7528335dup	NCBI36
NG_008803.1:g.46466_46467dup , LRG_423:g.46466_46467dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4511_4512dup	ENSP00000518230.1:p.Gly1505MetfsTer25
ENST00000379802.8:c.5840_5841dup MANE Select	ENSP00000369129.3:p.Gly1948MetfsTer25
ENST00000379802.7:c.5840_5841dup	ENSP00000369129.3:p.Gly1948MetfsTer25
ENST00000418664.2:c.4043_4044dup	ENSP00000396591.2:p.Gly1349MetfsTer25
NM_001008844.1:c.4043_4044dup	NP_001008844.1:p.Gly1349MetfsTer25
NM_004415.2:c.5840_5841dup , LRG_423t1:c.5840_5841dup	NP_004406.2:p.Gly1948MetfsTer25
XM_011514323.1:c.4511_4512dup	XP_011512625.1:p.Gly1505MetfsTer25
NM_001008844.2:c.4043_4044dup	NP_001008844.1:p.Gly1349MetfsTer25
NM_001319034.1:c.4511_4512dup	NP_001305963.1:p.Gly1505MetfsTer25
NM_004415.3:c.5840_5841dup	NP_004406.2:p.Gly1948MetfsTer25
NM_004415.4:c.5840_5841dup MANE Select	NP_004406.2:p.Gly1948MetfsTer25
NM_001008844.3:c.4043_4044dup	NP_001008844.1:p.Gly1349MetfsTer25
NM_001319034.2:c.4511_4512dup	NP_001305963.1:p.Gly1505MetfsTer25