Canonical Allele Identifier: CA2671532895
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583402_99583412del , CM000666.2:g.99583402_99583412del GRCh38
NC_000004.11:g.100504559_100504569del , CM000666.1:g.100504559_100504569del GRCh37
NC_000004.10:g.100723582_100723592del NCBI36
NG_011469.1:g.24320_24330del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.278_288del MANE Select ENSP00000265517.5:p.Asn93ArgfsTer13
ENST00000457717.6:c.278_288del ENSP00000400821.1:p.Asn93ArgfsTer13
ENST00000505094.6:c.29_39del ENSP00000422782.2:p.Asn10ArgfsTer?
ENST00000511045.6:c.29_39del ENSP00000427679.2:p.Asn10ArgfsTer13
ENST00000265517.9:c.278_288del ENSP00000265517.5:p.Asn93ArgfsTer13
ENST00000422897.6:c.278_288del ENSP00000407350.2:p.Asn93ArgfsTer13
ENST00000457717.5:c.278_288del ENSP00000400821.1:p.Asn93ArgfsTer13
ENST00000505094.5:c.*368_*378del ENSP00000422782.1:n.*368_*378del
ENST00000506883.5:c.308_318del ENSP00000426755.1:p.Asn103ArgfsTer13
ENST00000511045.5:c.359_369del ENSP00000427679.1:p.Asn120ArgfsTer13
ENST00000513404.5:c.*341_*351del ENSP00000424972.1:n.*341_*351del
ENST00000515141.5:c.*341_*351del ENSP00000425642.1:n.*341_*351del
ENST00000619629.1:c.278_288del ENSP00000482850.1:p.Asn93ArgfsTer13
NM_000253.3:c.278_288del NP_000244.2:p.Asn93ArgfsTer13
NM_001300785.1:c.359_369del NP_001287714.1:p.Asn120ArgfsTer13
NM_000253.4:c.278_288del NP_000244.2:p.Asn93ArgfsTer13
NM_001300785.2:c.29_39del NP_001287714.2:p.Asn10ArgfsTer13
NM_001386140.1:c.278_288del MANE Select NP_001373069.1:p.Asn93ArgfsTer13