Canonical Allele Identifier: CA2580071899

Gene: MTTP

Linked Data

• ClinVar Variation Id: 1724277
• ClinVar RCV Id: RCV002309545

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583487_99583493del , CM000666.2:g.99583487_99583493del	GRCh38
NC_000004.11:g.100504644_100504650del , CM000666.1:g.100504644_100504650del	GRCh37
NC_000004.10:g.100723667_100723673del	NCBI36
NG_011469.1:g.24405_24411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.363_369del MANE Select	ENSP00000265517.5:p.Arg121SerfsTer5
ENST00000457717.6:c.363_369del	ENSP00000400821.1:p.Arg121SerfsTer5
ENST00000511045.6:c.114_120del	ENSP00000427679.2:p.Arg38SerfsTer5
ENST00000265517.9:c.363_369del	ENSP00000265517.5:p.Arg121SerfsTer5
ENST00000422897.6:c.363_369del	ENSP00000407350.2:p.Arg121SerfsTer5
ENST00000457717.5:c.363_369del	ENSP00000400821.1:p.Arg121SerfsTer5
ENST00000506883.5:c.393_399del	ENSP00000426755.1:p.Arg131SerfsTer5
ENST00000511045.5:c.444_450del	ENSP00000427679.1:p.Arg148SerfsTer5
ENST00000619629.1:c.363_369del	ENSP00000482850.1:p.Arg121SerfsTer5
NM_000253.3:c.363_369del	NP_000244.2:p.Arg121SerfsTer5
NM_001300785.1:c.444_450del	NP_001287714.1:p.Arg148SerfsTer5
NM_000253.4:c.363_369del	NP_000244.2:p.Arg121SerfsTer5
NM_001300785.2:c.114_120del	NP_001287714.2:p.Arg38SerfsTer5
NM_001386140.1:c.363_369del MANE Select	NP_001373069.1:p.Arg121SerfsTer5