Canonical Allele Identifier: CA27590415

Gene: DBT

Linked Data

• dbSNP Id: rs995211485
• gnomAD v2: 1-100680661-CT-C
• gnomAD v3: 1-100215105-CT-C
• gnomAD v4: 1-100215105-CT-C
• MyVariant Identifiers: chr1:g.100680662del (hg19) ; chr1:g.100215106del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100215107del , CM000663.2:g.100215107del	GRCh38
NC_000001.10:g.100680663del , CM000663.1:g.100680663del	GRCh37
NC_000001.9:g.100453251del	NCBI36
NG_011852.2:g.39748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.773-123del	ENSP00000505544.1:n.773-123del
ENST00000681780.1:c.230-123del	ENSP00000505780.1:n.230-123del
ENST00000370131.3:c.773-123del	ENSP00000359150.3:n.773-123del
ENST00000370132.8:c.773-123del MANE Select	ENSP00000359151.3:n.773-123del
NM_001918.3:c.773-123del	NP_001909.3:n.773-123del
XM_005270545.2:c.230-123del	XP_005270602.1:n.230-123del
XM_005270546.2:c.230-123del	XP_005270603.1:n.230-123del
XR_946560.1:n.793-123del
XM_005270545.4:c.230-123del	XP_005270602.1:n.230-123del
XM_017000468.2:c.230-123del	XP_016855957.1:n.230-123del
XM_017000469.2:c.230-123del	XP_016855958.1:n.230-123del
XR_946560.3:n.790-123del
NM_001918.4:c.773-123del	NP_001909.3:n.773-123del
NM_001918.5:c.773-123del MANE Select	NP_001909.4:n.773-123del
NM_001399969.1:c.230-123del	NP_001386898.1:n.230-123del
NM_001399972.1:c.230-123del	NP_001386901.1:n.230-123del
NR_174363.1:n.605-123del
NR_174364.1:n.787-123del
NR_174365.1:n.570-123del
NR_174366.1:n.787-123del