Canonical Allele Identifier: CA27590123

Gene: DBT

Linked Data

• dbSNP Id: rs1019065407
• gnomAD v3: 1-100214770-CAAAT-C
• gnomAD v4: 1-100214770-CAAAT-C
• MyVariant Identifiers: chr1:g.100680327_100680330del (hg19) ; chr1:g.100214771_100214774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214775_100214778del , CM000663.2:g.100214775_100214778del	GRCh38
NC_000001.10:g.100680331_100680334del , CM000663.1:g.100680331_100680334del	GRCh37
NC_000001.9:g.100452919_100452922del	NCBI36
NG_011852.2:g.40080_40083del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.939+43_939+46del	ENSP00000505544.1:n.939+43_939+46del
ENST00000681780.1:c.396+43_396+46del	ENSP00000505780.1:n.396+43_396+46del
ENST00000370131.3:c.939+43_939+46del	ENSP00000359150.3:n.939+43_939+46del
ENST00000370132.8:c.939+43_939+46del MANE Select	ENSP00000359151.3:n.939+43_939+46del
NM_001918.3:c.939+43_939+46del	NP_001909.3:n.939+43_939+46del
XM_005270545.2:c.396+43_396+46del	XP_005270602.1:n.396+43_396+46del
XM_005270546.2:c.396+43_396+46del	XP_005270603.1:n.396+43_396+46del
XR_946560.1:n.959+43_959+46del
XM_005270545.4:c.396+43_396+46del	XP_005270602.1:n.396+43_396+46del
XM_017000468.2:c.396+43_396+46del	XP_016855957.1:n.396+43_396+46del
XM_017000469.2:c.396+43_396+46del	XP_016855958.1:n.396+43_396+46del
XR_946560.3:n.956+43_956+46del
NM_001918.4:c.939+43_939+46del	NP_001909.3:n.939+43_939+46del
NM_001918.5:c.939+43_939+46del MANE Select	NP_001909.4:n.939+43_939+46del
NM_001399969.1:c.396+43_396+46del	NP_001386898.1:n.396+43_396+46del
NM_001399972.1:c.396+43_396+46del	NP_001386901.1:n.396+43_396+46del
NR_174363.1:n.771+43_771+46del
NR_174364.1:n.953+43_953+46del
NR_174365.1:n.736+43_736+46del
NR_174366.1:n.953+43_953+46del