Canonical Allele Identifier: CA27590366

Gene: DBT

Linked Data

• dbSNP Id: rs899177359
• gnomAD v4: 1-100215036-CCTT-C
• MyVariant Identifiers: chr1:g.100680593_100680595del (hg19) ; chr1:g.100215037_100215039del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100215037_100215039del , CM000663.2:g.100215037_100215039del	GRCh38
NC_000001.10:g.100680593_100680595del , CM000663.1:g.100680593_100680595del	GRCh37
NC_000001.9:g.100453181_100453183del	NCBI36
NG_011852.2:g.39815_39817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.773-56_773-54del	ENSP00000505544.1:n.773-56_773-54del
ENST00000681780.1:c.230-56_230-54del	ENSP00000505780.1:n.230-56_230-54del
ENST00000370131.3:c.773-56_773-54del	ENSP00000359150.3:n.773-56_773-54del
ENST00000370132.8:c.773-56_773-54del MANE Select	ENSP00000359151.3:n.773-56_773-54del
NM_001918.3:c.773-56_773-54del	NP_001909.3:n.773-56_773-54del
XM_005270545.2:c.230-56_230-54del	XP_005270602.1:n.230-56_230-54del
XM_005270546.2:c.230-56_230-54del	XP_005270603.1:n.230-56_230-54del
XR_946560.1:n.793-56_793-54del
XM_005270545.4:c.230-56_230-54del	XP_005270602.1:n.230-56_230-54del
XM_017000468.2:c.230-56_230-54del	XP_016855957.1:n.230-56_230-54del
XM_017000469.2:c.230-56_230-54del	XP_016855958.1:n.230-56_230-54del
XR_946560.3:n.790-56_790-54del
NM_001918.4:c.773-56_773-54del	NP_001909.3:n.773-56_773-54del
NM_001918.5:c.773-56_773-54del MANE Select	NP_001909.4:n.773-56_773-54del
NM_001399969.1:c.230-56_230-54del	NP_001386898.1:n.230-56_230-54del
NM_001399972.1:c.230-56_230-54del	NP_001386901.1:n.230-56_230-54del
NR_174363.1:n.605-56_605-54del
NR_174364.1:n.787-56_787-54del
NR_174365.1:n.570-56_570-54del
NR_174366.1:n.787-56_787-54del