Canonical Allele Identifier: CA2578152163

Gene: MTTP

Linked Data

• ClinVar Variation Id: 3017557
• ClinVar RCV Id: RCV003874156
• gnomAD v4: 4-99583522-AGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583524_99583526del , CM000666.2:g.99583524_99583526del	GRCh38
NC_000004.11:g.100504681_100504683del , CM000666.1:g.100504681_100504683del	GRCh37
NC_000004.10:g.100723704_100723706del	NCBI36
NG_011469.1:g.24442_24444del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.393+7_393+9del MANE Select	ENSP00000265517.5:n.393+7_393+9del
ENST00000457717.6:c.393+7_393+9del	ENSP00000400821.1:n.393+7_393+9del
ENST00000511045.6:c.144+7_144+9del	ENSP00000427679.2:n.144+7_144+9del
ENST00000265517.9:c.393+7_393+9del	ENSP00000265517.5:n.393+7_393+9del
ENST00000422897.6:c.400_402del	ENSP00000407350.2:p.Gly134del
ENST00000457717.5:c.393+7_393+9del	ENSP00000400821.1:n.393+7_393+9del
ENST00000506883.5:c.423+7_423+9del	ENSP00000426755.1:n.423+7_423+9del
ENST00000511045.5:c.474+7_474+9del	ENSP00000427679.1:n.474+7_474+9del
ENST00000619629.1:c.393+7_393+9del	ENSP00000482850.1:n.393+7_393+9del
NM_000253.3:c.393+7_393+9del	NP_000244.2:n.393+7_393+9del
NM_001300785.1:c.474+7_474+9del	NP_001287714.1:n.474+7_474+9del
NM_000253.4:c.393+7_393+9del	NP_000244.2:n.393+7_393+9del
NM_001300785.2:c.144+7_144+9del	NP_001287714.2:n.144+7_144+9del
NM_001386140.1:c.393+7_393+9del MANE Select	NP_001373069.1:n.393+7_393+9del