Canonical Allele Identifier: CA2578152334

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600724_99600725del , CM000666.2:g.99600724_99600725del	GRCh38
NC_000004.11:g.100521881_100521882del , CM000666.1:g.100521881_100521882del	GRCh37
NC_000004.10:g.100740904_100740905del	NCBI36
NG_011469.1:g.41642_41643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1227_1228del MANE Select	ENSP00000265517.5:p.Arg409SerfsTer4
ENST00000457717.6:c.1227_1228del	ENSP00000400821.1:p.Arg409SerfsTer4
ENST00000511045.6:c.978_979del	ENSP00000427679.2:p.Arg326SerfsTer4
ENST00000265517.9:c.1227_1228del	ENSP00000265517.5:p.Arg409SerfsTer4
ENST00000457717.5:c.1227_1228del	ENSP00000400821.1:p.Arg409SerfsTer4
ENST00000511045.5:c.1308_1309del	ENSP00000427679.1:p.Arg436SerfsTer4
ENST00000619629.1:c.1227_1228del	ENSP00000482850.1:p.Arg409SerfsTer4
NM_000253.3:c.1227_1228del	NP_000244.2:p.Arg409SerfsTer4
NM_001300785.1:c.1308_1309del	NP_001287714.1:p.Arg436SerfsTer4
NM_000253.4:c.1227_1228del	NP_000244.2:p.Arg409SerfsTer4
NM_001300785.2:c.978_979del	NP_001287714.2:p.Arg326SerfsTer4
NM_001386140.1:c.1227_1228del MANE Select	NP_001373069.1:p.Arg409SerfsTer4