Canonical Allele Identifier: CA102624829
Gene: MTTP HGNC NCBI
dbSNP:
755155385
gnomAD v2:
4:100512792 CTATT / C
gnomAD v4:
chr4-99591635-CTATT-C
Joint Max Group AF 8e-7 (NFE)
Exomes Max Group AF 8.5e-7 (NFE)
MyVariant.info:
GRCh38 chr4:g.99591640_99591643del
GRCh38 chr4:g.99591636_99591639del
GRCh37 chr4:g.100512797_100512800del
GRCh37 chr4:g.100512793_100512796del
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99591646_99591649del , CM000666.2:g.99591646_99591649del GRCh38
NC_000004.11:g.100512803_100512806del , CM000666.1:g.100512803_100512806del GRCh37
NC_000004.10:g.100731826_100731829del NCBI36
NG_011469.1:g.32564_32567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.619-5_619-2del MANE Select ENSP00000265517.5:n.619-5_619-2del
ENST00000457717.6:c.619-5_619-2del ENSP00000400821.1:n.619-5_619-2del
ENST00000511045.6:c.370-5_370-2del ENSP00000427679.2:n.370-5_370-2del
ENST00000265517.9:c.619-5_619-2del ENSP00000265517.5:n.619-5_619-2del
ENST00000457717.5:c.619-5_619-2del ENSP00000400821.1:n.619-5_619-2del
ENST00000511045.5:c.700-5_700-2del ENSP00000427679.1:n.700-5_700-2del
ENST00000619629.1:c.619-5_619-2del ENSP00000482850.1:n.619-5_619-2del
NM_000253.3:c.619-5_619-2del NP_000244.2:n.619-5_619-2del
NM_001300785.1:c.700-5_700-2del NP_001287714.1:n.700-5_700-2del
NM_000253.4:c.619-5_619-2del NP_000244.2:n.619-5_619-2del
NM_001300785.2:c.370-5_370-2del NP_001287714.2:n.370-5_370-2del
NM_001386140.1:c.619-5_619-2del MANE Select NP_001373069.1:n.619-5_619-2del
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