Canonical Allele Identifier: CA346315

Gene: DSP

Linked Data

• ClinVar Variation Id: 180340
• ClinVar RCV Id: RCV000157213 ; RCV000320969 ; RCV000694615 ; RCV001186231 ; RCV002453528
• dbSNP Id: rs730880373
• ExAC: 6:7575640 A / ATCT
• gnomAD v2: 6-7575640-A-ATCT
• gnomAD v3: 6-7575407-A-ATCT
• gnomAD v4: 6-7575407-A-ATCT
• MyVariant Identifiers: chr6:g.7575641_7575643dupTCT (hg19) ; chr6:g.7575640_7575641insTCT (hg19) ; chr6:g.7575408_7575410dupTCT (hg38) ; chr6:g.7575407_7575408insTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7575408_7575410dup , CM000668.2:g.7575408_7575410dup	GRCh38
NC_000006.11:g.7575641_7575643dup , CM000668.1:g.7575641_7575643dup	GRCh37
NC_000006.10:g.7520640_7520642dup	NCBI36
NG_008803.1:g.38772_38774dup , LRG_423:g.38772_38774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.2550_2552dup	ENSP00000518230.1:p.Leu851_Asp852insLeu
ENST00000684395.1:n.1191_1193dup
ENST00000379802.8:c.2550_2552dup MANE Select	ENSP00000369129.3:p.Leu851_Asp852insLeu
ENST00000379802.7:c.2550_2552dup	ENSP00000369129.3:p.Leu851_Asp852insLeu
ENST00000418664.2:c.2550_2552dup	ENSP00000396591.2:p.Leu851_Asp852insLeu
NM_001008844.1:c.2550_2552dup	NP_001008844.1:p.Leu851_Asp852insLeu
NM_004415.2:c.2550_2552dup , LRG_423t1:c.2550_2552dup	NP_004406.2:p.Leu851_Asp852insLeu
XM_011514323.1:c.2550_2552dup	XP_011512625.1:p.Leu851_Asp852insLeu
NM_001008844.2:c.2550_2552dup	NP_001008844.1:p.Leu851_Asp852insLeu
NM_001319034.1:c.2550_2552dup	NP_001305963.1:p.Leu851_Asp852insLeu
NM_004415.3:c.2550_2552dup	NP_004406.2:p.Leu851_Asp852insLeu
NM_004415.4:c.2550_2552dup MANE Select	NP_004406.2:p.Leu851_Asp852insLeu
NM_001008844.3:c.2550_2552dup	NP_001008844.1:p.Leu851_Asp852insLeu
NM_001319034.2:c.2550_2552dup	NP_001305963.1:p.Leu851_Asp852insLeu