Canonical Allele Identifier: CA884504472

Gene: DBT

Linked Data

• dbSNP Id: rs1287627067
• gnomAD v4: 1-100206135-CA-C
• MyVariant Identifiers: chr1:g.100671692del (hg19) ; chr1:g.100206136del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206139del , CM000663.2:g.100206139del	GRCh38
NC_000001.10:g.100671695del , CM000663.1:g.100671695del	GRCh37
NC_000001.9:g.100444283del	NCBI36
NG_011852.2:g.48718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.1407+94del	ENSP00000505544.1:n.1407+94del
ENST00000681780.1:c.738+94del	ENSP00000505780.1:n.738+94del
ENST00000370132.8:c.1281+94del MANE Select	ENSP00000359151.3:n.1281+94del
NM_001918.3:c.1281+94del	NP_001909.3:n.1281+94del
XM_005270545.2:c.738+94del	XP_005270602.1:n.738+94del
XM_005270546.2:c.738+94del	XP_005270603.1:n.738+94del
XM_005270545.4:c.738+94del	XP_005270602.1:n.738+94del
XM_017000468.2:c.738+94del	XP_016855957.1:n.738+94del
XM_017000469.2:c.738+94del	XP_016855958.1:n.738+94del
NM_001918.4:c.1281+94del	NP_001909.3:n.1281+94del
NM_001918.5:c.1281+94del MANE Select	NP_001909.4:n.1281+94del
NM_001399969.1:c.738+94del	NP_001386898.1:n.738+94del
NM_001399972.1:c.738+94del	NP_001386901.1:n.738+94del
NR_174363.1:n.1113+94del
NR_174364.1:n.1295+94del
NR_174365.1:n.1078+94del
NR_174366.1:n.1380+94del