Canonical Allele Identifier: CA2762811661

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583571_99583575del , CM000666.2:g.99583571_99583575del	GRCh38
NC_000004.11:g.100504728_100504732del , CM000666.1:g.100504728_100504732del	GRCh37
NC_000004.10:g.100723751_100723755del	NCBI36
NG_011469.1:g.24489_24493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.393+54_393+58del MANE Select	ENSP00000265517.5:n.393+54_393+58del
ENST00000457717.6:c.393+54_393+58del	ENSP00000400821.1:n.393+54_393+58del
ENST00000511045.6:c.144+54_144+58del	ENSP00000427679.2:n.144+54_144+58del
ENST00000265517.9:c.393+54_393+58del	ENSP00000265517.5:n.393+54_393+58del
ENST00000422897.6:c.447_451del	ENSP00000407350.2:p.Leu150ValfsTer7
ENST00000457717.5:c.393+54_393+58del	ENSP00000400821.1:n.393+54_393+58del
ENST00000506883.5:c.423+54_423+58del	ENSP00000426755.1:n.423+54_423+58del
ENST00000511045.5:c.474+54_474+58del	ENSP00000427679.1:n.474+54_474+58del
ENST00000619629.1:c.393+54_393+58del	ENSP00000482850.1:n.393+54_393+58del
NM_000253.3:c.393+54_393+58del	NP_000244.2:n.393+54_393+58del
NM_001300785.1:c.474+54_474+58del	NP_001287714.1:n.474+54_474+58del
NM_000253.4:c.393+54_393+58del	NP_000244.2:n.393+54_393+58del
NM_001300785.2:c.144+54_144+58del	NP_001287714.2:n.144+54_144+58del
NM_001386140.1:c.393+54_393+58del MANE Select	NP_001373069.1:n.393+54_393+58del