Canonical Allele Identifier: CA2671532897

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583488-C-CCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583490_99583492dup , CM000666.2:g.99583490_99583492dup	GRCh38
NC_000004.11:g.100504647_100504649dup , CM000666.1:g.100504647_100504649dup	GRCh37
NC_000004.10:g.100723670_100723672dup	NCBI36
NG_011469.1:g.24408_24410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.366_368dup MANE Select	ENSP00000265517.5:p.Thr123_Leu124insThr
ENST00000457717.6:c.366_368dup	ENSP00000400821.1:p.Thr123_Leu124insThr
ENST00000511045.6:c.117_119dup	ENSP00000427679.2:p.Thr40_Leu41insThr
ENST00000265517.9:c.366_368dup	ENSP00000265517.5:p.Thr123_Leu124insThr
ENST00000422897.6:c.366_368dup	ENSP00000407350.2:p.Thr123_Leu124insThr
ENST00000457717.5:c.366_368dup	ENSP00000400821.1:p.Thr123_Leu124insThr
ENST00000506883.5:c.396_398dup	ENSP00000426755.1:p.Thr133_Leu134insThr
ENST00000511045.5:c.447_449dup	ENSP00000427679.1:p.Thr150_Leu151insThr
ENST00000619629.1:c.366_368dup	ENSP00000482850.1:p.Thr123_Leu124insThr
NM_000253.3:c.366_368dup	NP_000244.2:p.Thr123_Leu124insThr
NM_001300785.1:c.447_449dup	NP_001287714.1:p.Thr150_Leu151insThr
NM_000253.4:c.366_368dup	NP_000244.2:p.Thr123_Leu124insThr
NM_001300785.2:c.117_119dup	NP_001287714.2:p.Thr40_Leu41insThr
NM_001386140.1:c.366_368dup MANE Select	NP_001373069.1:p.Thr123_Leu124insThr