Canonical Allele Identifier: CA16616951
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 422717
ClinVar RCV Id: RCV000480067
dbSNP Id: rs1064795955
MyVariant Identifiers: chr1:g.100681580del (hg19) chr1:g.100216024del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100216025del , CM000663.2:g.100216025del GRCh38
NC_000001.10:g.100681581del , CM000663.1:g.100681581del GRCh37
NC_000001.9:g.100454169del NCBI36
NG_011852.2:g.38830del

Transcript Alleles

HGVS Amino-acid change
ENST00000681617.1:c.731del ENSP00000505544.1:p.Pro244LeufsTer13
ENST00000681780.1:c.188del ENSP00000505780.1:p.Pro63LeufsTer13
ENST00000370131.3:c.731del ENSP00000359150.3:p.Pro244LeufsTer13
ENST00000370132.8:c.731del MANE Select ENSP00000359151.3:p.Pro244LeufsTer13
NM_001918.3:c.731del NP_001909.3:p.Pro244LeufsTer13
XM_005270545.2:c.188del XP_005270602.1:p.Pro63LeufsTer13
XM_005270546.2:c.188del XP_005270603.1:p.Pro63LeufsTer13
XR_946560.1:n.751del
XM_005270545.4:c.188del XP_005270602.1:p.Pro63LeufsTer13
XM_017000468.2:c.188del XP_016855957.1:p.Pro63LeufsTer13
XM_017000469.2:c.188del XP_016855958.1:p.Pro63LeufsTer13
XR_946560.3:n.748del
NM_001918.4:c.731del NP_001909.3:p.Pro244LeufsTer13
NM_001918.5:c.731del MANE Select NP_001909.4:p.Pro244LeufsTer13
NM_001399969.1:c.188del NP_001386898.1:p.Pro63LeufsTer13
NM_001399972.1:c.188del NP_001386901.1:p.Pro63LeufsTer13
NR_174363.1:n.563del
NR_174364.1:n.745del
NR_174365.1:n.570-1041del
NR_174366.1:n.745del
Search 100 bp 5'
Search 100 bp 3'