Canonical Allele Identifier: CA2646763431

Gene: DBT

Linked Data

• gnomAD v4: 1-100214828-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214829_100214831del , CM000663.2:g.100214829_100214831del	GRCh38
NC_000001.10:g.100680385_100680387del , CM000663.1:g.100680385_100680387del	GRCh37
NC_000001.9:g.100452973_100452975del	NCBI36
NG_011852.2:g.40023_40025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.925_927del	ENSP00000505544.1:p.Pro309del
ENST00000681780.1:c.382_384del	ENSP00000505780.1:p.Pro128del
ENST00000370131.3:c.925_927del	ENSP00000359150.3:p.Pro309del
ENST00000370132.8:c.925_927del MANE Select	ENSP00000359151.3:p.Pro309del
NM_001918.3:c.925_927del	NP_001909.3:p.Pro309del
XM_005270545.2:c.382_384del	XP_005270602.1:p.Pro128del
XM_005270546.2:c.382_384del	XP_005270603.1:p.Pro128del
XR_946560.1:n.945_947del
XM_005270545.4:c.382_384del	XP_005270602.1:p.Pro128del
XM_017000468.2:c.382_384del	XP_016855957.1:p.Pro128del
XM_017000469.2:c.382_384del	XP_016855958.1:p.Pro128del
XR_946560.3:n.942_944del
NM_001918.4:c.925_927del	NP_001909.3:p.Pro309del
NM_001918.5:c.925_927del MANE Select	NP_001909.4:p.Pro309del
NM_001399969.1:c.382_384del	NP_001386898.1:p.Pro128del
NM_001399972.1:c.382_384del	NP_001386901.1:p.Pro128del
NR_174363.1:n.757_759del
NR_174364.1:n.939_941del
NR_174365.1:n.722_724del
NR_174366.1:n.939_941del