Canonical Allele Identifier: CA2646760021

Gene: DBT

Linked Data

• gnomAD v4: 1-100206087-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206091_100206094del , CM000663.2:g.100206091_100206094del	GRCh38
NC_000001.10:g.100671647_100671650del , CM000663.1:g.100671647_100671650del	GRCh37
NC_000001.9:g.100444235_100444238del	NCBI36
NG_011852.2:g.48763_48766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.1407+139_1407+142del	ENSP00000505544.1:n.1407+139_1407+142del
ENST00000681780.1:c.738+139_738+142del	ENSP00000505780.1:n.738+139_738+142del
ENST00000370132.8:c.1281+139_1281+142del MANE Select	ENSP00000359151.3:n.1281+139_1281+142del
NM_001918.3:c.1281+139_1281+142del	NP_001909.3:n.1281+139_1281+142del
XM_005270545.2:c.738+139_738+142del	XP_005270602.1:n.738+139_738+142del
XM_005270546.2:c.738+139_738+142del	XP_005270603.1:n.738+139_738+142del
XM_005270545.4:c.738+139_738+142del	XP_005270602.1:n.738+139_738+142del
XM_017000468.2:c.738+139_738+142del	XP_016855957.1:n.738+139_738+142del
XM_017000469.2:c.738+139_738+142del	XP_016855958.1:n.738+139_738+142del
NM_001918.4:c.1281+139_1281+142del	NP_001909.3:n.1281+139_1281+142del
NM_001918.5:c.1281+139_1281+142del MANE Select	NP_001909.4:n.1281+139_1281+142del
NM_001399969.1:c.738+139_738+142del	NP_001386898.1:n.738+139_738+142del
NM_001399972.1:c.738+139_738+142del	NP_001386901.1:n.738+139_738+142del
NR_174363.1:n.1113+139_1113+142del
NR_174364.1:n.1295+139_1295+142del
NR_174365.1:n.1078+139_1078+142del
NR_174366.1:n.1380+139_1380+142del