Canonical Allele Identifier: CA1065939237

Gene: MTTP

Linked Data

• dbSNP Id: rs1725178934
• gnomAD v3: 4-99583486-G-GTTT
• gnomAD v4: 4-99583486-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583486_99583487insTTT , CM000666.2:g.99583486_99583487insTTT	GRCh38
NC_000004.11:g.100504643_100504644insTTT , CM000666.1:g.100504643_100504644insTTT	GRCh37
NC_000004.10:g.100723666_100723667insTTT	NCBI36
NG_011469.1:g.24404_24405insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.362_363insTTT MANE Select	ENSP00000265517.5:p.Arg121delinsSerLeu
ENST00000457717.6:c.362_363insTTT	ENSP00000400821.1:p.Arg121delinsSerLeu
ENST00000511045.6:c.113_114insTTT	ENSP00000427679.2:p.Arg38delinsSerLeu
ENST00000265517.9:c.362_363insTTT	ENSP00000265517.5:p.Arg121delinsSerLeu
ENST00000422897.6:c.362_363insTTT	ENSP00000407350.2:p.Arg121delinsSerLeu
ENST00000457717.5:c.362_363insTTT	ENSP00000400821.1:p.Arg121delinsSerLeu
ENST00000506883.5:c.392_393insTTT	ENSP00000426755.1:p.Arg131delinsSerLeu
ENST00000511045.5:c.443_444insTTT	ENSP00000427679.1:p.Arg148delinsSerLeu
ENST00000619629.1:c.362_363insTTT	ENSP00000482850.1:p.Arg121delinsSerLeu
NM_000253.3:c.362_363insTTT	NP_000244.2:p.Arg121delinsSerLeu
NM_001300785.1:c.443_444insTTT	NP_001287714.1:p.Arg148delinsSerLeu
NM_000253.4:c.362_363insTTT	NP_000244.2:p.Arg121delinsSerLeu
NM_001300785.2:c.113_114insTTT	NP_001287714.2:p.Arg38delinsSerLeu
NM_001386140.1:c.362_363insTTT MANE Select	NP_001373069.1:p.Arg121delinsSerLeu