Canonical Allele Identifier: CA658799425

Gene: DSCAM

Linked Data

• ClinVar Variation Id: 545077
• ClinVar RCV Id: RCV000656296
• dbSNP Id: rs1555869463
• MyVariant Identifiers: chr21:g.41414396del (hg19) ; chr21:g.40042469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.40042472del , CM000683.2:g.40042472del	GRCh38
NC_000021.8:g.41414399del , CM000683.1:g.41414399del	GRCh37
NC_000021.7:g.40336269del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400454.6:c.5588del MANE Select	ENSP00000383303.1:p.Pro1863LeufsTer22
ENST00000400454.5:c.5588del	ENSP00000383303.1:p.Pro1863LeufsTer22
ENST00000404019.2:c.4844del	ENSP00000385342.2:p.Pro1615LeufsTer22
ENST00000617870.4:c.5093del	ENSP00000478698.1:p.Pro1698LeufsTer22
NM_001271534.1:c.5588del	NP_001258463.1:p.Pro1863LeufsTer22
NM_001389.3:c.5588del	NP_001380.2:p.Pro1863LeufsTer22
NR_073202.1:n.5849del
XM_011529481.1:c.3224del	XP_011527783.1:p.Pro1075LeufsTer22
NM_001271534.2:c.5588del	NP_001258463.1:p.Pro1863LeufsTer22
NM_001389.4:c.5588del	NP_001380.2:p.Pro1863LeufsTer22
NR_073202.2:n.5875del
XM_017028281.1:c.4880del	XP_016883770.1:p.Pro1627LeufsTer22
NM_001389.5:c.5588del MANE Select	NP_001380.2:p.Pro1863LeufsTer22
NM_001271534.3:c.5588del	NP_001258463.1:p.Pro1863LeufsTer22
NR_073202.3:n.5894del