Canonical Allele Identifier: CA2573130512

Gene: DBT

Linked Data

• ClinVar Variation Id: 1394661
• ClinVar RCV Id: RCV001900959
• dbSNP Id: rs2100834784

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100235446_100235447del , CM000663.2:g.100235446_100235447del	GRCh38
NC_000001.10:g.100701002_100701003del , CM000663.1:g.100701002_100701003del	GRCh37
NC_000001.9:g.100473590_100473591del	NCBI36
NG_011852.2:g.19408_19409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.241_242del	ENSP00000505544.1:p.Val81Ter
ENST00000681780.1:c.-303_-302del	ENSP00000505780.1:n.-303_-302del
ENST00000370131.3:c.241_242del	ENSP00000359150.3:p.Val81Ter
ENST00000370132.8:c.241_242del MANE Select	ENSP00000359151.3:p.Val81Ter
NM_001918.3:c.241_242del	NP_001909.3:p.Val81Ter
XM_005270545.2:c.-303_-302del	XP_005270602.1:n.-303_-302del
XM_005270546.2:c.-121_-120del	XP_005270603.1:n.-121_-120del
XR_946560.1:n.261_262del
XM_005270545.4:c.-303_-302del	XP_005270602.1:n.-303_-302del
XM_017000468.2:c.-303_-302del	XP_016855957.1:n.-303_-302del
XM_017000469.2:c.-121_-120del	XP_016855958.1:n.-121_-120del
XR_946560.3:n.258_259del
NM_001918.4:c.241_242del	NP_001909.3:p.Val81Ter
NM_001918.5:c.241_242del MANE Select	NP_001909.4:p.Val81Ter
NM_001399969.1:c.-303_-302del	NP_001386898.1:n.-303_-302del
NM_001399972.1:c.-303_-302del	NP_001386901.1:n.-303_-302del
NR_174363.1:n.255_256del
NR_174364.1:n.255_256del
NR_174365.1:n.255_256del
NR_174366.1:n.255_256del