Canonical Allele Identifier: CA884497342

Gene: DBT

Linked Data

• dbSNP Id: rs1345045520
• gnomAD v3: 1-100235351-CCATT-C
• gnomAD v4: 1-100235351-CCATT-C
• MyVariant Identifiers: chr1:g.100700908_100700911del (hg19) ; chr1:g.100235352_100235355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100235352_100235355del , CM000663.2:g.100235352_100235355del	GRCh38
NC_000001.10:g.100700908_100700911del , CM000663.1:g.100700908_100700911del	GRCh37
NC_000001.9:g.100473496_100473499del	NCBI36
NG_011852.2:g.19499_19502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.251+81_251+84del	ENSP00000505544.1:n.251+81_251+84del
ENST00000681780.1:c.-293+81_-293+84del	ENSP00000505780.1:n.-293+81_-293+84del
ENST00000370131.3:c.251+81_251+84del	ENSP00000359150.3:n.251+81_251+84del
ENST00000370132.8:c.251+81_251+84del MANE Select	ENSP00000359151.3:n.251+81_251+84del
NM_001918.3:c.251+81_251+84del	NP_001909.3:n.251+81_251+84del
XM_005270545.2:c.-293+81_-293+84del	XP_005270602.1:n.-293+81_-293+84del
XM_005270546.2:c.-111+81_-111+84del	XP_005270603.1:n.-111+81_-111+84del
XR_946560.1:n.271+81_271+84del
XM_005270545.4:c.-293+81_-293+84del	XP_005270602.1:n.-293+81_-293+84del
XM_017000468.2:c.-293+81_-293+84del	XP_016855957.1:n.-293+81_-293+84del
XM_017000469.2:c.-111+81_-111+84del	XP_016855958.1:n.-111+81_-111+84del
XR_946560.3:n.268+81_268+84del
NM_001918.4:c.251+81_251+84del	NP_001909.3:n.251+81_251+84del
NM_001918.5:c.251+81_251+84del MANE Select	NP_001909.4:n.251+81_251+84del
NM_001399969.1:c.-293+81_-293+84del	NP_001386898.1:n.-293+81_-293+84del
NM_001399972.1:c.-293+81_-293+84del	NP_001386901.1:n.-293+81_-293+84del
NR_174363.1:n.265+81_265+84del
NR_174364.1:n.265+81_265+84del
NR_174365.1:n.265+81_265+84del
NR_174366.1:n.265+81_265+84del