Canonical Allele Identifier: CA553568445

Gene: MTTP

Linked Data

• dbSNP Id: rs1456821101
• gnomAD v2: 4-100504541-TA-T
• gnomAD v4: 4-99583384-TA-T
• MyVariant Identifiers: chr4:g.100504542del (hg19) ; chr4:g.99583385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583387del , CM000666.2:g.99583387del	GRCh38
NC_000004.11:g.100504544del , CM000666.1:g.100504544del	GRCh37
NC_000004.10:g.100723567del	NCBI36
NG_011469.1:g.24305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.263del MANE Select	ENSP00000265517.5:p.Asn88MetfsTer5
ENST00000457717.6:c.263del	ENSP00000400821.1:p.Asn88MetfsTer5
ENST00000505094.6:c.14del	ENSP00000422782.2:p.Asn5MetfsTer5
ENST00000511045.6:c.14del	ENSP00000427679.2:p.Asn5MetfsTer5
ENST00000265517.9:c.263del	ENSP00000265517.5:p.Asn88MetfsTer5
ENST00000422897.6:c.263del	ENSP00000407350.2:p.Asn88MetfsTer5
ENST00000457717.5:c.263del	ENSP00000400821.1:p.Asn88MetfsTer5
ENST00000505094.5:c.*353del	ENSP00000422782.1:n.*353del
ENST00000506883.5:c.293del	ENSP00000426755.1:p.Asn98MetfsTer5
ENST00000511045.5:c.344del	ENSP00000427679.1:p.Asn115MetfsTer5
ENST00000513404.5:c.*326del	ENSP00000424972.1:n.*326del
ENST00000515141.5:c.*326del	ENSP00000425642.1:n.*326del
ENST00000619629.1:c.263del	ENSP00000482850.1:p.Asn88MetfsTer5
NM_000253.3:c.263del	NP_000244.2:p.Asn88MetfsTer5
NM_001300785.1:c.344del	NP_001287714.1:p.Asn115MetfsTer5
NM_000253.4:c.263del	NP_000244.2:p.Asn88MetfsTer5
NM_001300785.2:c.14del	NP_001287714.2:p.Asn5MetfsTer5
NM_001386140.1:c.263del MANE Select	NP_001373069.1:p.Asn88MetfsTer5